Canonical Allele Identifier: CA1492804167
Gene: MFSD8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.127921646A= , CM000666.2:g.127921646A= GRCh38
NC_000004.11:g.128842801A= , CM000666.1:g.128842801A= GRCh37
NC_000004.10:g.129062251A= NCBI36
NG_008657.1:g.49339T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000296468.8:c.1228T= ENSP00000296468.3:p.Tyr410=
ENST00000509826.2:c.*549T= ENSP00000421176.2:n.*549T=
ENST00000513559.6:c.946T= ENSP00000425000.2:p.Tyr316=
ENST00000515130.6:c.*113T= ENSP00000493056.1:n.*113T=
ENST00000641025.1:c.*113T= ENSP00000493346.1:n.*113T=
ENST00000641092.1:c.*113T= ENSP00000493392.1:n.*113T=
ENST00000641133.1:c.*542T= ENSP00000493192.1:n.*542T=
ENST00000641146.1:n.1094T=
ENST00000641147.1:c.778T= ENSP00000493133.1:p.Tyr260=
ENST00000641178.1:c.1093T= ENSP00000492989.1:p.Tyr365=
ENST00000641186.1:c.1114T= ENSP00000493347.1:p.Tyr372=
ENST00000641228.1:c.*113T= ENSP00000493194.1:n.*113T=
ENST00000641332.1:c.*289T= ENSP00000493397.1:n.*289T=
ENST00000641340.1:c.*357T= ENSP00000493191.1:n.*357T=
ENST00000641388.1:n.475T=
ENST00000641393.1:c.778T= ENSP00000493197.1:p.Tyr260=
ENST00000641397.1:c.*113T= ENSP00000493406.1:n.*113T=
ENST00000641413.1:c.153T=
ENST00000641434.1:c.1228T= ENSP00000493279.1:p.Tyr410=
ENST00000641464.1:c.*461T= ENSP00000493438.1:n.*461T=
ENST00000641482.1:c.*113T= ENSP00000493277.1:n.*113T=
ENST00000641508.1:c.*461T= ENSP00000493209.1:n.*461T=
ENST00000641509.1:c.913T= ENSP00000493459.1:p.Tyr305=
ENST00000641590.1:c.*113T= ENSP00000493132.1:n.*113T=
ENST00000641658.1:c.*393T= ENSP00000492987.1:n.*393T=
ENST00000641686.2:c.1228T= MANE Select ENSP00000493218.2:p.Tyr410=
ENST00000641690.1:c.1027T= ENSP00000492966.1:p.Tyr343=
ENST00000641742.1:c.*393T= ENSP00000493315.1:n.*393T=
ENST00000641748.1:c.1228T= ENSP00000493330.1:p.Tyr410=
ENST00000641753.1:c.1055T=
ENST00000641774.1:c.*480T= ENSP00000492960.1:n.*480T=
ENST00000641830.1:c.460T=
ENST00000641843.1:c.*289T= ENSP00000493174.1:n.*289T=
ENST00000641869.1:c.429T=
ENST00000641870.1:c.*289T= ENSP00000493044.1:n.*289T=
ENST00000641882.1:c.*393T= ENSP00000493301.1:n.*393T=
ENST00000641928.1:c.*357T= ENSP00000493418.1:n.*357T=
ENST00000641949.1:c.554-810T= ENSP00000492891.1:n.554-810T=
ENST00000642012.1:n.1092T=
ENST00000642034.1:c.*113T= ENSP00000493285.1:n.*113T=
ENST00000642042.1:c.1228T= ENSP00000493260.1:p.Tyr410=
ENST00000642078.1:c.*289T= ENSP00000492885.1:n.*289T=
ENST00000296468.7:c.1228T= ENSP00000296468.3:p.Tyr410=
ENST00000504126.1:n.256T=
ENST00000513559.5:c.1093T= ENSP00000425000.1:p.Tyr365=
ENST00000515130.5:n.1570T=
NM_152778.2:c.1228T= NP_689991.1:p.Tyr410=
XM_005262893.1:c.1228T= XP_005262950.1:p.Tyr410=
XM_005262896.1:c.1081T= XP_005262953.1:p.Tyr361=
XM_005262897.1:c.1027T= XP_005262954.1:p.Tyr343=
XM_005262898.2:c.*113T= XP_005262955.1:n.*113T=
XM_011531830.1:c.1114T= XP_011530132.1:p.Tyr372=
XM_011531831.1:c.913T= XP_011530133.1:p.Tyr305=
XM_011531832.1:c.*113T= XP_011530134.1:n.*113T=
XR_938717.1:n.1305T=
NM_001363520.1:c.1027T= NP_001350449.1:p.Tyr343=
NM_001363521.1:c.913T= NP_001350450.1:p.Tyr305=
XM_005262898.3:c.*113T= XP_005262955.1:n.*113T=
XM_017007989.1:c.*113T= XP_016863478.1:n.*113T=
XM_024453981.1:c.1093T= XP_024309749.1:p.Tyr365=
XM_024453982.1:c.979T= XP_024309750.1:p.Tyr327=
XM_024453983.1:c.778T= XP_024309751.1:p.Tyr260=
XR_001741194.1:n.1201T=
XR_001741195.1:n.1087T=
XR_001741196.1:n.1000T=
XR_001741197.1:n.1160T=
XR_001741198.2:n.1056T=
XR_001741199.1:n.1056T=
XR_938717.2:n.1305T=
NM_001363520.2:c.1027T= NP_001350449.1:p.Tyr343=
NM_001363521.2:c.913T= NP_001350450.1:p.Tyr305=
NM_001371590.1:c.1093T= NP_001358519.1:p.Tyr365=
NM_001371591.1:c.1228T= NP_001358520.1:p.Tyr410=
NM_001371592.1:c.1234T= NP_001358521.1:p.Tyr412=
NM_001371593.1:c.1114T= NP_001358522.1:p.Tyr372=
NM_001371594.1:c.1081T= NP_001358523.1:p.Tyr361=
NM_001371595.1:c.946T= NP_001358524.1:p.Tyr316=
NM_001371596.2:c.1228T= MANE Select NP_001358525.1:p.Tyr410=
NM_152778.3:c.1228T= NP_689991.1:p.Tyr410=
NM_152778.4:c.1228T= NP_689991.1:p.Tyr410=