Canonical Allele Identifier: CA353559377
Gene: MITF HGNC NCBI

Linked Data

dbSNP Id: rs2107551837

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69964881C>T , CM000665.2:g.69964881C>T GRCh38
NC_000003.11:g.70014032C>T , CM000665.1:g.70014032C>T GRCh37
NC_000003.10:g.70096722C>T NCBI36
NG_011631.1:g.230400C>T , LRG_776:g.230400C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000314589.11:c.1148C>T ENSP00000324443.5:p.Ser383Phe
ENST00000687384.1:c.1145C>T ENSP00000510225.1:p.Ser382Phe
ENST00000689390.1:n.1370C>T
ENST00000693031.1:c.1121C>T ENSP00000509845.1:p.Ser374Phe
ENST00000693549.1:c.1114-33C>T ENSP00000509358.1:n.1114-33C>T
ENST00000314589.10:c.1148C>T ENSP00000324443.5:p.Ser383Phe
ENST00000352241.9:c.1214C>T MANE Select ENSP00000295600.8:p.Ser405Phe
ENST00000394351.9:c.893C>T MANE Plus Clinical ENSP00000377880.3:p.Ser298Phe
ENST00000448226.9:c.1193C>T ENSP00000391803.3:p.Ser398Phe
ENST00000642352.1:c.1196C>T ENSP00000494105.1:p.Ser399Phe
ENST00000314557.10:c.875C>T ENSP00000324246.6:p.Ser292Phe
ENST00000314589.9:c.1148C>T ENSP00000324443.5:p.Ser383Phe
ENST00000328528.10:c.1193C>T ENSP00000327867.6:p.Ser398Phe
ENST00000352241.8:c.1196C>T ENSP00000295600.7:p.Ser399Phe
ENST00000394351.7:c.893C>T ENSP00000377880.3:p.Ser298Phe
ENST00000448226.6:c.1214C>T ENSP00000391803.2:p.Ser405Phe
ENST00000472437.5:c.1040C>T ENSP00000418845.1:p.Ser347Phe
ENST00000478490.5:c.*540C>T ENSP00000433487.1:n.*540C>T
ENST00000531774.1:c.707C>T ENSP00000435909.1:p.Ser236Phe
NM_000248.3:c.893C>T , LRG_776t1:c.893C>T NP_000239.1:p.Ser298Phe
NM_001184967.1:c.1040C>T NP_001171896.1:p.Ser347Phe
NM_006722.2:c.1193C>T NP_006713.1:p.Ser398Phe
NM_198158.2:c.875C>T NP_937801.1:p.Ser292Phe
NM_198159.2:c.1196C>T NP_937802.1:p.Ser399Phe
NM_198177.2:c.1148C>T NP_937820.1:p.Ser383Phe
NM_198178.2:c.707C>T NP_937821.2:p.Ser236Phe
XM_005264754.1:c.1214C>T XP_005264811.1:p.Ser405Phe
XM_005264755.2:c.1166C>T XP_005264812.1:p.Ser389Phe
XM_006713164.2:c.1058C>T XP_006713227.1:p.Ser353Phe
XM_011533722.1:c.1211C>T XP_011532024.1:p.Ser404Phe
XM_011533723.1:c.1163C>T XP_011532025.1:p.Ser388Phe
XM_011533724.1:c.1058C>T XP_011532026.1:p.Ser353Phe
XM_011533725.1:c.1046C>T XP_011532027.1:p.Ser349Phe
XM_011533726.1:c.1028C>T XP_011532028.1:p.Ser343Phe
NM_001354604.1:c.1214C>T NP_001341533.1:p.Ser405Phe
NM_001354605.1:c.1211C>T NP_001341534.1:p.Ser404Phe
NM_001354606.1:c.1193C>T NP_001341535.1:p.Ser398Phe
NM_001354607.1:c.1145C>T NP_001341536.1:p.Ser382Phe
NM_001354608.1:c.1040C>T NP_001341537.1:p.Ser347Phe
NM_001184967.2:c.1040C>T NP_001171896.1:p.Ser347Phe
NM_001354604.2:c.1214C>T MANE Select NP_001341533.1:p.Ser405Phe
NM_001354605.2:c.1211C>T NP_001341534.1:p.Ser404Phe
NM_001354606.2:c.1193C>T NP_001341535.1:p.Ser398Phe
NM_001354607.2:c.1145C>T NP_001341536.1:p.Ser382Phe
NM_001354608.2:c.1040C>T NP_001341537.1:p.Ser347Phe
NM_198158.3:c.875C>T NP_937801.1:p.Ser292Phe
NM_198159.3:c.1196C>T NP_937802.1:p.Ser399Phe
NM_198177.3:c.1148C>T NP_937820.1:p.Ser383Phe
NM_198178.3:c.707C>T NP_937821.2:p.Ser236Phe
NM_000248.4:c.893C>T MANE Plus Clinical NP_000239.1:p.Ser298Phe
NM_006722.3:c.1193C>T NP_006713.1:p.Ser398Phe