Canonical Allele Identifier: CA1492817181
Gene: MFSD8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.127921515C= , CM000666.2:g.127921515C= GRCh38
NC_000004.11:g.128842670C= , CM000666.1:g.128842670C= GRCh37
NC_000004.10:g.129062120C= NCBI36
NG_008657.1:g.49470G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000296468.8:c.1350+9G= ENSP00000296468.3:n.1350+9G=
ENST00000509826.2:c.*671+9G= ENSP00000421176.2:n.*671+9G=
ENST00000513559.6:c.1068+9G= ENSP00000425000.2:n.1068+9G=
ENST00000515130.6:c.*235+9G= ENSP00000493056.1:n.*235+9G=
ENST00000641025.1:c.*235+9G= ENSP00000493346.1:n.*235+9G=
ENST00000641092.1:c.*235+9G= ENSP00000493392.1:n.*235+9G=
ENST00000641133.1:c.*673G= ENSP00000493192.1:n.*673G=
ENST00000641146.1:n.1225G=
ENST00000641147.1:c.900+9G= ENSP00000493133.1:n.900+9G=
ENST00000641178.1:c.1215+9G= ENSP00000492989.1:n.1215+9G=
ENST00000641186.1:c.1236+9G= ENSP00000493347.1:n.1236+9G=
ENST00000641228.1:c.*244G= ENSP00000493194.1:n.*244G=
ENST00000641332.1:c.*411+9G= ENSP00000493397.1:n.*411+9G=
ENST00000641340.1:c.*488G= ENSP00000493191.1:n.*488G=
ENST00000641388.1:n.597+9G=
ENST00000641393.1:c.900+9G= ENSP00000493197.1:n.900+9G=
ENST00000641397.1:c.*235+9G= ENSP00000493406.1:n.*235+9G=
ENST00000641413.1:c.275+9G=
ENST00000641434.1:c.1350+9G= ENSP00000493279.1:n.1350+9G=
ENST00000641464.1:c.*583+9G= ENSP00000493438.1:n.*583+9G=
ENST00000641482.1:c.*244G= ENSP00000493277.1:n.*244G=
ENST00000641508.1:c.*583+9G= ENSP00000493209.1:n.*583+9G=
ENST00000641509.1:c.1035+9G= ENSP00000493459.1:n.1035+9G=
ENST00000641590.1:c.*244G= ENSP00000493132.1:n.*244G=
ENST00000641658.1:c.*515+9G= ENSP00000492987.1:n.*515+9G=
ENST00000641686.2:c.1350+9G= MANE Select ENSP00000493218.2:n.1350+9G=
ENST00000641690.1:c.1149+9G= ENSP00000492966.1:n.1149+9G=
ENST00000641742.1:c.*515+9G= ENSP00000493315.1:n.*515+9G=
ENST00000641748.1:c.1350+9G= ENSP00000493330.1:n.1350+9G=
ENST00000641753.1:c.1177+9G=
ENST00000641774.1:c.*602+9G= ENSP00000492960.1:n.*602+9G=
ENST00000641830.1:c.591G=
ENST00000641843.1:c.*411+9G= ENSP00000493174.1:n.*411+9G=
ENST00000641869.1:c.551+9G=
ENST00000641870.1:c.*420G= ENSP00000493044.1:n.*420G=
ENST00000641882.1:c.*515+9G= ENSP00000493301.1:n.*515+9G=
ENST00000641928.1:c.*479+9G= ENSP00000493418.1:n.*479+9G=
ENST00000641949.1:c.554-679G= ENSP00000492891.1:n.554-679G=
ENST00000642012.1:n.1214+9G=
ENST00000642034.1:c.*235+9G= ENSP00000493285.1:n.*235+9G=
ENST00000642042.1:c.1359G= ENSP00000493260.1:p.Gln453=
ENST00000642078.1:c.*411+9G= ENSP00000492885.1:n.*411+9G=
ENST00000296468.7:c.1350+9G= ENSP00000296468.3:n.1350+9G=
ENST00000504126.1:n.387G=
ENST00000513559.5:c.1215+9G= ENSP00000425000.1:n.1215+9G=
ENST00000515130.5:n.1692+9G=
NM_152778.2:c.1350+9G= NP_689991.1:n.1350+9G=
XM_005262893.1:c.1350+9G= XP_005262950.1:n.1350+9G=
XM_005262896.1:c.1203+9G= XP_005262953.1:n.1203+9G=
XM_005262897.1:c.1149+9G= XP_005262954.1:n.1149+9G=
XM_005262898.2:c.*244G= XP_005262955.1:n.*244G=
XM_011531830.1:c.1236+9G= XP_011530132.1:n.1236+9G=
XM_011531831.1:c.1035+9G= XP_011530133.1:n.1035+9G=
XM_011531832.1:c.*244G= XP_011530134.1:n.*244G=
XR_938717.1:n.1436G=
NM_001363520.1:c.1149+9G= NP_001350449.1:n.1149+9G=
NM_001363521.1:c.1035+9G= NP_001350450.1:n.1035+9G=
XM_005262898.3:c.*244G= XP_005262955.1:n.*244G=
XM_017007989.1:c.*244G= XP_016863478.1:n.*244G=
XM_024453981.1:c.1215+9G= XP_024309749.1:n.1215+9G=
XM_024453982.1:c.1101+9G= XP_024309750.1:n.1101+9G=
XM_024453983.1:c.900+9G= XP_024309751.1:n.900+9G=
XR_001741194.1:n.1323+9G=
XR_001741195.1:n.1209+9G=
XR_001741196.1:n.1122+9G=
XR_001741197.1:n.1291G=
XR_001741198.2:n.1187G=
XR_001741199.1:n.1178+9G=
XR_938717.2:n.1436G=
NM_001363520.2:c.1149+9G= NP_001350449.1:n.1149+9G=
NM_001363521.2:c.1035+9G= NP_001350450.1:n.1035+9G=
NM_001371590.1:c.1215+9G= NP_001358519.1:n.1215+9G=
NM_001371591.1:c.1359G= NP_001358520.1:p.Gln453=
NM_001371592.1:c.1356+9G= NP_001358521.1:n.1356+9G=
NM_001371593.1:c.1236+9G= NP_001358522.1:n.1236+9G=
NM_001371594.1:c.1203+9G= NP_001358523.1:n.1203+9G=
NM_001371595.1:c.1068+9G= NP_001358524.1:n.1068+9G=
NM_001371596.2:c.1350+9G= MANE Select NP_001358525.1:n.1350+9G=
NM_152778.3:c.1350+9G= NP_689991.1:n.1350+9G=
NM_152778.4:c.1350+9G= NP_689991.1:n.1350+9G=