Canonical Allele Identifier: CA1492816596
Gene: MFSD8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.127920826A= , CM000666.2:g.127920826A= GRCh38
NC_000004.11:g.128841981A= , CM000666.1:g.128841981A= GRCh37
NC_000004.10:g.129061431A= NCBI36
NG_008657.1:g.50159T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000296468.8:c.1361T= ENSP00000296468.3:p.Met454=
ENST00000509826.2:c.*682T= ENSP00000421176.2:n.*682T=
ENST00000513559.6:c.1079T= ENSP00000425000.2:p.Met360=
ENST00000515130.6:c.*246T= ENSP00000493056.1:n.*246T=
ENST00000641025.1:c.*246T= ENSP00000493346.1:n.*246T=
ENST00000641092.1:c.*246T= ENSP00000493392.1:n.*246T=
ENST00000641133.1:c.*1362T= ENSP00000493192.1:n.*1362T=
ENST00000641146.1:n.1914T=
ENST00000641147.1:c.911T= ENSP00000493133.1:p.Met304=
ENST00000641178.1:c.1226T= ENSP00000492989.1:p.Met409=
ENST00000641186.1:c.1247T= ENSP00000493347.1:p.Met416=
ENST00000641228.1:c.*933T= ENSP00000493194.1:n.*933T=
ENST00000641332.1:c.*503T= ENSP00000493397.1:n.*503T=
ENST00000641340.1:c.*1177T= ENSP00000493191.1:n.*1177T=
ENST00000641388.1:n.608T=
ENST00000641393.1:c.911T= ENSP00000493197.1:p.Met304=
ENST00000641397.1:c.*246T= ENSP00000493406.1:n.*246T=
ENST00000641413.1:c.286T=
ENST00000641434.1:c.1361T= ENSP00000493279.1:p.Met454=
ENST00000641464.1:c.*594T= ENSP00000493438.1:n.*594T=
ENST00000641482.1:c.*933T= ENSP00000493277.1:n.*933T=
ENST00000641508.1:c.*594T= ENSP00000493209.1:n.*594T=
ENST00000641509.1:c.1046T= ENSP00000493459.1:p.Met349=
ENST00000641590.1:c.*933T= ENSP00000493132.1:n.*933T=
ENST00000641658.1:c.*526T= ENSP00000492987.1:n.*526T=
ENST00000641686.2:c.1361T= MANE Select ENSP00000493218.2:p.Met454=
ENST00000641690.1:c.1160T= ENSP00000492966.1:p.Met387=
ENST00000641742.1:c.*526T= ENSP00000493315.1:n.*526T=
ENST00000641748.1:c.1361T= ENSP00000493330.1:p.Met454=
ENST00000641753.1:c.1188T=
ENST00000641774.1:c.*613T= ENSP00000492960.1:n.*613T=
ENST00000641843.1:c.*422T= ENSP00000493174.1:n.*422T=
ENST00000641869.1:c.562T=
ENST00000641870.1:c.*1109T= ENSP00000493044.1:n.*1109T=
ENST00000641882.1:c.*526T= ENSP00000493301.1:n.*526T=
ENST00000641928.1:c.*490T= ENSP00000493418.1:n.*490T=
ENST00000641949.1:c.564T= ENSP00000492891.1:p.His188=
ENST00000642012.1:n.1225T=
ENST00000642034.1:c.*246T= ENSP00000493285.1:n.*246T=
ENST00000642042.1:c.*680T= ENSP00000493260.1:n.*680T=
ENST00000642078.1:c.*422T= ENSP00000492885.1:n.*422T=
ENST00000296468.7:c.1361T= ENSP00000296468.3:p.Met454=
ENST00000513559.5:c.1226T= ENSP00000425000.1:p.Met409=
ENST00000515130.5:n.1703T=
NM_152778.2:c.1361T= NP_689991.1:p.Met454=
XM_005262893.1:c.1361T= XP_005262950.1:p.Met454=
XM_005262896.1:c.1214T= XP_005262953.1:p.Met405=
XM_005262897.1:c.1160T= XP_005262954.1:p.Met387=
XM_005262898.2:c.*933T= XP_005262955.1:n.*933T=
XM_011531830.1:c.1247T= XP_011530132.1:p.Met416=
XM_011531831.1:c.1046T= XP_011530133.1:p.Met349=
XM_011531832.1:c.*933T= XP_011530134.1:n.*933T=
XR_938717.1:n.1844T=
NM_001363520.1:c.1160T= NP_001350449.1:p.Met387=
NM_001363521.1:c.1046T= NP_001350450.1:p.Met349=
XM_005262898.3:c.*933T= XP_005262955.1:n.*933T=
XM_017007989.1:c.*933T= XP_016863478.1:n.*933T=
XM_024453981.1:c.1226T= XP_024309749.1:p.Met409=
XM_024453982.1:c.1112T= XP_024309750.1:p.Met371=
XM_024453983.1:c.911T= XP_024309751.1:p.Met304=
XR_001741194.1:n.1334T=
XR_001741195.1:n.1220T=
XR_001741196.1:n.1133T=
XR_001741197.1:n.1980T=
XR_001741198.2:n.1876T=
XR_001741199.1:n.1189T=
XR_938717.2:n.1844T=
NM_001363520.2:c.1160T= NP_001350449.1:p.Met387=
NM_001363521.2:c.1046T= NP_001350450.1:p.Met349=
NM_001371590.1:c.1226T= NP_001358519.1:p.Met409=
NM_001371591.1:c.1370T= NP_001358520.1:p.Met457=
NM_001371592.1:c.1367T= NP_001358521.1:p.Met456=
NM_001371593.1:c.1247T= NP_001358522.1:p.Met416=
NM_001371594.1:c.1214T= NP_001358523.1:p.Met405=
NM_001371595.1:c.1079T= NP_001358524.1:p.Met360=
NM_001371596.2:c.1361T= MANE Select NP_001358525.1:p.Met454=
NM_152778.3:c.1361T= NP_689991.1:p.Met454=
NM_152778.4:c.1361T= NP_689991.1:p.Met454=