Canonical Allele Identifier: CA353559385
Gene: MITF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69964886A>T , CM000665.2:g.69964886A>T GRCh38
NC_000003.11:g.70014037A>T , CM000665.1:g.70014037A>T GRCh37
NC_000003.10:g.70096727A>T NCBI36
NG_011631.1:g.230405A>T , LRG_776:g.230405A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000314589.11:c.1153A>T ENSP00000324443.5:p.Ile385Phe
ENST00000687384.1:c.1150A>T ENSP00000510225.1:p.Ile384Phe
ENST00000689390.1:n.1375A>T
ENST00000693031.1:c.1126A>T ENSP00000509845.1:p.Ile376Phe
ENST00000693549.1:c.1114-28A>T ENSP00000509358.1:n.1114-28A>T
ENST00000314589.10:c.1153A>T ENSP00000324443.5:p.Ile385Phe
ENST00000352241.9:c.1219A>T MANE Select ENSP00000295600.8:p.Ile407Phe
ENST00000394351.9:c.898A>T MANE Plus Clinical ENSP00000377880.3:p.Ile300Phe
ENST00000448226.9:c.1198A>T ENSP00000391803.3:p.Ile400Phe
ENST00000642352.1:c.1201A>T ENSP00000494105.1:p.Ile401Phe
ENST00000314557.10:c.880A>T ENSP00000324246.6:p.Ile294Phe
ENST00000314589.9:c.1153A>T ENSP00000324443.5:p.Ile385Phe
ENST00000328528.10:c.1198A>T ENSP00000327867.6:p.Ile400Phe
ENST00000352241.8:c.1201A>T ENSP00000295600.7:p.Ile401Phe
ENST00000394351.7:c.898A>T ENSP00000377880.3:p.Ile300Phe
ENST00000448226.6:c.1219A>T ENSP00000391803.2:p.Ile407Phe
ENST00000472437.5:c.1045A>T ENSP00000418845.1:p.Ile349Phe
ENST00000478490.5:c.*545A>T ENSP00000433487.1:n.*545A>T
ENST00000531774.1:c.712A>T ENSP00000435909.1:p.Ile238Phe
NM_000248.3:c.898A>T , LRG_776t1:c.898A>T NP_000239.1:p.Ile300Phe
NM_001184967.1:c.1045A>T NP_001171896.1:p.Ile349Phe
NM_006722.2:c.1198A>T NP_006713.1:p.Ile400Phe
NM_198158.2:c.880A>T NP_937801.1:p.Ile294Phe
NM_198159.2:c.1201A>T NP_937802.1:p.Ile401Phe
NM_198177.2:c.1153A>T NP_937820.1:p.Ile385Phe
NM_198178.2:c.712A>T NP_937821.2:p.Ile238Phe
XM_005264754.1:c.1219A>T XP_005264811.1:p.Ile407Phe
XM_005264755.2:c.1171A>T XP_005264812.1:p.Ile391Phe
XM_006713164.2:c.1063A>T XP_006713227.1:p.Ile355Phe
XM_011533722.1:c.1216A>T XP_011532024.1:p.Ile406Phe
XM_011533723.1:c.1168A>T XP_011532025.1:p.Ile390Phe
XM_011533724.1:c.1063A>T XP_011532026.1:p.Ile355Phe
XM_011533725.1:c.1051A>T XP_011532027.1:p.Ile351Phe
XM_011533726.1:c.1033A>T XP_011532028.1:p.Ile345Phe
NM_001354604.1:c.1219A>T NP_001341533.1:p.Ile407Phe
NM_001354605.1:c.1216A>T NP_001341534.1:p.Ile406Phe
NM_001354606.1:c.1198A>T NP_001341535.1:p.Ile400Phe
NM_001354607.1:c.1150A>T NP_001341536.1:p.Ile384Phe
NM_001354608.1:c.1045A>T NP_001341537.1:p.Ile349Phe
NM_001184967.2:c.1045A>T NP_001171896.1:p.Ile349Phe
NM_001354604.2:c.1219A>T MANE Select NP_001341533.1:p.Ile407Phe
NM_001354605.2:c.1216A>T NP_001341534.1:p.Ile406Phe
NM_001354606.2:c.1198A>T NP_001341535.1:p.Ile400Phe
NM_001354607.2:c.1150A>T NP_001341536.1:p.Ile384Phe
NM_001354608.2:c.1045A>T NP_001341537.1:p.Ile349Phe
NM_198158.3:c.880A>T NP_937801.1:p.Ile294Phe
NM_198159.3:c.1201A>T NP_937802.1:p.Ile401Phe
NM_198177.3:c.1153A>T NP_937820.1:p.Ile385Phe
NM_198178.3:c.712A>T NP_937821.2:p.Ile238Phe
NM_000248.4:c.898A>T MANE Plus Clinical NP_000239.1:p.Ile300Phe
NM_006722.3:c.1198A>T NP_006713.1:p.Ile400Phe