Canonical Allele Identifier: CA2490654
Community Standard Title: NM_001354604.2(MITF):c.1384G>A (p.Gly462Arg)
Gene: MITF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69965051G>A , CM000665.2:g.69965051G>A GRCh38
NC_000003.11:g.70014202G>A , CM000665.1:g.70014202G>A GRCh37
NC_000003.10:g.70096892G>A NCBI36
NG_011631.1:g.230570G>A , LRG_776:g.230570G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001354604.2:c.1384G>A MANE Select NP_001341533.1:p.Gly462Arg
ENST00000352241.9:c.1384G>A MANE Select ENSP00000295600.8:p.Gly462Arg
NM_000248.4:c.1063G>A MANE Plus Clinical NP_000239.1:p.Gly355Arg
ENST00000394351.9:c.1063G>A MANE Plus Clinical ENSP00000377880.3:p.Gly355Arg
NM_000248.3:c.1063G>A , LRG_776t1:c.1063G>A NP_000239.1:p.Gly355Arg
NM_001184967.1:c.1210G>A NP_001171896.1:p.Gly404Arg
NM_001184967.2:c.1210G>A NP_001171896.1:p.Gly404Arg
NM_001354604.1:c.1384G>A NP_001341533.1:p.Gly462Arg
NM_001354605.1:c.1381G>A NP_001341534.1:p.Gly461Arg
NM_001354605.2:c.1381G>A NP_001341534.1:p.Gly461Arg
NM_001354606.1:c.1363G>A NP_001341535.1:p.Gly455Arg
NM_001354606.2:c.1363G>A NP_001341535.1:p.Gly455Arg
NM_001354607.1:c.1315G>A NP_001341536.1:p.Gly439Arg
NM_001354607.2:c.1315G>A NP_001341536.1:p.Gly439Arg
NM_001354608.1:c.1210G>A NP_001341537.1:p.Gly404Arg
NM_001354608.2:c.1210G>A NP_001341537.1:p.Gly404Arg
NM_006722.2:c.1363G>A NP_006713.1:p.Gly455Arg
NM_006722.3:c.1363G>A NP_006713.1:p.Gly455Arg
NM_198158.2:c.1045G>A NP_937801.1:p.Gly349Arg
NM_198158.3:c.1045G>A NP_937801.1:p.Gly349Arg
NM_198159.2:c.1366G>A NP_937802.1:p.Gly456Arg
NM_198159.3:c.1366G>A NP_937802.1:p.Gly456Arg
NM_198177.2:c.1318G>A NP_937820.1:p.Gly440Arg
NM_198177.3:c.1318G>A NP_937820.1:p.Gly440Arg
NM_198178.2:c.877G>A NP_937821.2:p.Gly293Arg
NM_198178.3:c.877G>A NP_937821.2:p.Gly293Arg
ENST00000314557.10:c.1045G>A ENSP00000324246.6:p.Gly349Arg
ENST00000314589.10:c.1318G>A ENSP00000324443.5:p.Gly440Arg
ENST00000314589.11:c.1318G>A ENSP00000324443.5:p.Gly440Arg
ENST00000314589.9:c.1318G>A ENSP00000324443.5:p.Gly440Arg
ENST00000328528.10:c.1363G>A ENSP00000327867.6:p.Gly455Arg
ENST00000352241.8:c.1366G>A ENSP00000295600.7:p.Gly456Arg
ENST00000394351.7:c.1063G>A ENSP00000377880.3:p.Gly355Arg
ENST00000448226.6:c.1384G>A ENSP00000391803.2:p.Gly462Arg
ENST00000448226.9:c.1363G>A ENSP00000391803.3:p.Gly455Arg
ENST00000472437.5:c.1210G>A ENSP00000418845.1:p.Gly404Arg
ENST00000478490.5:c.*710G>A ENSP00000433487.1:n.*710G>A
ENST00000531774.1:c.877G>A ENSP00000435909.1:p.Gly293Arg
ENST00000642352.1:c.1366G>A ENSP00000494105.1:p.Gly456Arg
ENST00000687384.1:c.1315G>A ENSP00000510225.1:p.Gly439Arg
ENST00000689390.1:n.1540G>A
ENST00000693031.1:c.1291G>A ENSP00000509845.1:p.Gly431Arg
ENST00000693549.1:c.*129G>A ENSP00000509358.1:n.*129G>A
XM_005264754.1:c.1384G>A XP_005264811.1:p.Gly462Arg
XM_005264755.2:c.1336G>A XP_005264812.1:p.Gly446Arg
XM_006713164.2:c.1228G>A XP_006713227.1:p.Gly410Arg
XM_011533722.1:c.1381G>A XP_011532024.1:p.Gly461Arg
XM_011533723.1:c.1333G>A XP_011532025.1:p.Gly445Arg
XM_011533724.1:c.1228G>A XP_011532026.1:p.Gly410Arg
XM_011533725.1:c.1216G>A XP_011532027.1:p.Gly406Arg
XM_011533726.1:c.1198G>A XP_011532028.1:p.Gly400Arg