Canonical Allele Identifier: CA353559395
Gene: MITF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69964892T>A , CM000665.2:g.69964892T>A GRCh38
NC_000003.11:g.70014043T>A , CM000665.1:g.70014043T>A GRCh37
NC_000003.10:g.70096733T>A NCBI36
NG_011631.1:g.230411T>A , LRG_776:g.230411T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000314589.11:c.1159T>A ENSP00000324443.5:p.Ser387Thr
ENST00000687384.1:c.1156T>A ENSP00000510225.1:p.Ser386Thr
ENST00000689390.1:n.1381T>A
ENST00000693031.1:c.1132T>A ENSP00000509845.1:p.Ser378Thr
ENST00000693549.1:c.1114-22T>A ENSP00000509358.1:n.1114-22T>A
ENST00000314589.10:c.1159T>A ENSP00000324443.5:p.Ser387Thr
ENST00000352241.9:c.1225T>A MANE Select ENSP00000295600.8:p.Ser409Thr
ENST00000394351.9:c.904T>A MANE Plus Clinical ENSP00000377880.3:p.Ser302Thr
ENST00000448226.9:c.1204T>A ENSP00000391803.3:p.Ser402Thr
ENST00000642352.1:c.1207T>A ENSP00000494105.1:p.Ser403Thr
ENST00000314557.10:c.886T>A ENSP00000324246.6:p.Ser296Thr
ENST00000314589.9:c.1159T>A ENSP00000324443.5:p.Ser387Thr
ENST00000328528.10:c.1204T>A ENSP00000327867.6:p.Ser402Thr
ENST00000352241.8:c.1207T>A ENSP00000295600.7:p.Ser403Thr
ENST00000394351.7:c.904T>A ENSP00000377880.3:p.Ser302Thr
ENST00000448226.6:c.1225T>A ENSP00000391803.2:p.Ser409Thr
ENST00000472437.5:c.1051T>A ENSP00000418845.1:p.Ser351Thr
ENST00000478490.5:c.*551T>A ENSP00000433487.1:n.*551T>A
ENST00000531774.1:c.718T>A ENSP00000435909.1:p.Ser240Thr
NM_000248.3:c.904T>A , LRG_776t1:c.904T>A NP_000239.1:p.Ser302Thr
NM_001184967.1:c.1051T>A NP_001171896.1:p.Ser351Thr
NM_006722.2:c.1204T>A NP_006713.1:p.Ser402Thr
NM_198158.2:c.886T>A NP_937801.1:p.Ser296Thr
NM_198159.2:c.1207T>A NP_937802.1:p.Ser403Thr
NM_198177.2:c.1159T>A NP_937820.1:p.Ser387Thr
NM_198178.2:c.718T>A NP_937821.2:p.Ser240Thr
XM_005264754.1:c.1225T>A XP_005264811.1:p.Ser409Thr
XM_005264755.2:c.1177T>A XP_005264812.1:p.Ser393Thr
XM_006713164.2:c.1069T>A XP_006713227.1:p.Ser357Thr
XM_011533722.1:c.1222T>A XP_011532024.1:p.Ser408Thr
XM_011533723.1:c.1174T>A XP_011532025.1:p.Ser392Thr
XM_011533724.1:c.1069T>A XP_011532026.1:p.Ser357Thr
XM_011533725.1:c.1057T>A XP_011532027.1:p.Ser353Thr
XM_011533726.1:c.1039T>A XP_011532028.1:p.Ser347Thr
NM_001354604.1:c.1225T>A NP_001341533.1:p.Ser409Thr
NM_001354605.1:c.1222T>A NP_001341534.1:p.Ser408Thr
NM_001354606.1:c.1204T>A NP_001341535.1:p.Ser402Thr
NM_001354607.1:c.1156T>A NP_001341536.1:p.Ser386Thr
NM_001354608.1:c.1051T>A NP_001341537.1:p.Ser351Thr
NM_001184967.2:c.1051T>A NP_001171896.1:p.Ser351Thr
NM_001354604.2:c.1225T>A MANE Select NP_001341533.1:p.Ser409Thr
NM_001354605.2:c.1222T>A NP_001341534.1:p.Ser408Thr
NM_001354606.2:c.1204T>A NP_001341535.1:p.Ser402Thr
NM_001354607.2:c.1156T>A NP_001341536.1:p.Ser386Thr
NM_001354608.2:c.1051T>A NP_001341537.1:p.Ser351Thr
NM_198158.3:c.886T>A NP_937801.1:p.Ser296Thr
NM_198159.3:c.1207T>A NP_937802.1:p.Ser403Thr
NM_198177.3:c.1159T>A NP_937820.1:p.Ser387Thr
NM_198178.3:c.718T>A NP_937821.2:p.Ser240Thr
NM_000248.4:c.904T>A MANE Plus Clinical NP_000239.1:p.Ser302Thr
NM_006722.3:c.1204T>A NP_006713.1:p.Ser402Thr