Canonical Allele Identifier: CA353561627
Gene: MITF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69951866A>G , CM000665.2:g.69951866A>G GRCh38
NC_000003.11:g.70001017A>G , CM000665.1:g.70001017A>G GRCh37
NC_000003.10:g.70083707A>G NCBI36
NG_011631.1:g.217385A>G , LRG_776:g.217385A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.869A>G ENSP00000324443.5:p.Lys290Arg
ENST00000687384.1:c.866A>G ENSP00000510225.1:p.Lys289Arg
ENST00000689390.1:n.1091A>G
ENST00000693031.1:c.842A>G ENSP00000509845.1:p.Lys281Arg
ENST00000693549.1:c.869A>G ENSP00000509358.1:p.Lys290Arg
ENST00000314589.10:c.869A>G ENSP00000324443.5:p.Lys290Arg
ENST00000352241.9:c.935A>G MANE Select ENSP00000295600.8:p.Lys312Arg
ENST00000394351.9:c.614A>G MANE Plus Clinical ENSP00000377880.3:p.Lys205Arg
ENST00000448226.9:c.914A>G ENSP00000391803.3:p.Lys305Arg
ENST00000642352.1:c.917A>G ENSP00000494105.1:p.Lys306Arg
ENST00000314557.10:c.596A>G ENSP00000324246.6:p.Lys199Arg
ENST00000314589.9:c.869A>G ENSP00000324443.5:p.Lys290Arg
ENST00000328528.10:c.914A>G ENSP00000327867.6:p.Lys305Arg
ENST00000352241.8:c.917A>G ENSP00000295600.7:p.Lys306Arg
ENST00000394351.7:c.614A>G ENSP00000377880.3:p.Lys205Arg
ENST00000448226.6:c.935A>G ENSP00000391803.2:p.Lys312Arg
ENST00000451708.5:c.887A>G ENSP00000398639.1:p.Lys296Arg
ENST00000472437.5:c.761A>G ENSP00000418845.1:p.Lys254Arg
ENST00000478490.5:c.*261A>G ENSP00000433487.1:n.*261A>G
ENST00000531774.1:c.428A>G ENSP00000435909.1:p.Lys143Arg
NM_000248.3:c.614A>G , LRG_776t1:c.614A>G NP_000239.1:p.Lys205Arg
NM_001184967.1:c.761A>G NP_001171896.1:p.Lys254Arg
NM_006722.2:c.914A>G NP_006713.1:p.Lys305Arg
NM_198158.2:c.596A>G NP_937801.1:p.Lys199Arg
NM_198159.2:c.917A>G NP_937802.1:p.Lys306Arg
NM_198177.2:c.869A>G NP_937820.1:p.Lys290Arg
NM_198178.2:c.428A>G NP_937821.2:p.Lys143Arg
XM_005264754.1:c.935A>G XP_005264811.1:p.Lys312Arg
XM_005264755.2:c.887A>G XP_005264812.1:p.Lys296Arg
XM_006713164.2:c.779A>G XP_006713227.1:p.Lys260Arg
XM_011533722.1:c.932A>G XP_011532024.1:p.Lys311Arg
XM_011533723.1:c.884A>G XP_011532025.1:p.Lys295Arg
XM_011533724.1:c.779A>G XP_011532026.1:p.Lys260Arg
XM_011533725.1:c.767A>G XP_011532027.1:p.Lys256Arg
XM_011533726.1:c.749A>G XP_011532028.1:p.Lys250Arg
NM_001354604.1:c.935A>G NP_001341533.1:p.Lys312Arg
NM_001354605.1:c.932A>G NP_001341534.1:p.Lys311Arg
NM_001354606.1:c.914A>G NP_001341535.1:p.Lys305Arg
NM_001354607.1:c.866A>G NP_001341536.1:p.Lys289Arg
NM_001354608.1:c.761A>G NP_001341537.1:p.Lys254Arg
NM_001184967.2:c.761A>G NP_001171896.1:p.Lys254Arg
NM_001354604.2:c.935A>G MANE Select NP_001341533.1:p.Lys312Arg
NM_001354605.2:c.932A>G NP_001341534.1:p.Lys311Arg
NM_001354606.2:c.914A>G NP_001341535.1:p.Lys305Arg
NM_001354607.2:c.866A>G NP_001341536.1:p.Lys289Arg
NM_001354608.2:c.761A>G NP_001341537.1:p.Lys254Arg
NM_198158.3:c.596A>G NP_937801.1:p.Lys199Arg
NM_198159.3:c.917A>G NP_937802.1:p.Lys306Arg
NM_198177.3:c.869A>G NP_937820.1:p.Lys290Arg
NM_198178.3:c.428A>G NP_937821.2:p.Lys143Arg
NM_000248.4:c.614A>G MANE Plus Clinical NP_000239.1:p.Lys205Arg
NM_006722.3:c.914A>G NP_006713.1:p.Lys305Arg