Canonical Allele Identifier: CA1373414428
Gene: MITF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69965148G= , CM000665.2:g.69965148G= GRCh38
NC_000003.11:g.70014299G= , CM000665.1:g.70014299G= GRCh37
NC_000003.10:g.70096989G= NCBI36
NG_011631.1:g.230667G= , LRG_776:g.230667G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.1415G= ENSP00000324443.5:p.Gly472=
ENST00000687384.1:c.1412G= ENSP00000510225.1:p.Gly471=
ENST00000689390.1:n.1637G=
ENST00000693031.1:c.1388G= ENSP00000509845.1:p.Gly463=
ENST00000693549.1:c.*226G= ENSP00000509358.1:n.*226G=
ENST00000314589.10:c.1415G= ENSP00000324443.5:p.Gly472=
ENST00000352241.9:c.1481G= MANE Select ENSP00000295600.8:p.Gly494=
ENST00000394351.9:c.1160G= MANE Plus Clinical ENSP00000377880.3:p.Gly387=
ENST00000448226.9:c.1460G= ENSP00000391803.3:p.Gly487=
ENST00000642352.1:c.1463G= ENSP00000494105.1:p.Gly488=
ENST00000314557.10:c.1142G= ENSP00000324246.6:p.Gly381=
ENST00000314589.9:c.1415G= ENSP00000324443.5:p.Gly472=
ENST00000328528.10:c.1460G= ENSP00000327867.6:p.Gly487=
ENST00000352241.8:c.1463G= ENSP00000295600.7:p.Gly488=
ENST00000394351.7:c.1160G= ENSP00000377880.3:p.Gly387=
ENST00000448226.6:c.1481G= ENSP00000391803.2:p.Gly494=
ENST00000472437.5:c.1307G= ENSP00000418845.1:p.Gly436=
ENST00000478490.5:c.*807G= ENSP00000433487.1:n.*807G=
ENST00000531774.1:c.974G= ENSP00000435909.1:p.Gly325=
NM_000248.3:c.1160G= , LRG_776t1:c.1160G= NP_000239.1:p.Gly387=
NM_001184967.1:c.1307G= NP_001171896.1:p.Gly436=
NM_006722.2:c.1460G= NP_006713.1:p.Gly487=
NM_198158.2:c.1142G= NP_937801.1:p.Gly381=
NM_198159.2:c.1463G= NP_937802.1:p.Gly488=
NM_198177.2:c.1415G= NP_937820.1:p.Gly472=
NM_198178.2:c.974G= NP_937821.2:p.Gly325=
XM_005264754.1:c.1481G= XP_005264811.1:p.Gly494=
XM_005264755.2:c.1433G= XP_005264812.1:p.Gly478=
XM_006713164.2:c.1325G= XP_006713227.1:p.Gly442=
XM_011533722.1:c.1478G= XP_011532024.1:p.Gly493=
XM_011533723.1:c.1430G= XP_011532025.1:p.Gly477=
XM_011533724.1:c.1325G= XP_011532026.1:p.Gly442=
XM_011533725.1:c.1313G= XP_011532027.1:p.Gly438=
XM_011533726.1:c.1295G= XP_011532028.1:p.Gly432=
NM_001354604.1:c.1481G= NP_001341533.1:p.Gly494=
NM_001354605.1:c.1478G= NP_001341534.1:p.Gly493=
NM_001354606.1:c.1460G= NP_001341535.1:p.Gly487=
NM_001354607.1:c.1412G= NP_001341536.1:p.Gly471=
NM_001354608.1:c.1307G= NP_001341537.1:p.Gly436=
NM_001184967.2:c.1307G= NP_001171896.1:p.Gly436=
NM_001354604.2:c.1481G= MANE Select NP_001341533.1:p.Gly494=
NM_001354605.2:c.1478G= NP_001341534.1:p.Gly493=
NM_001354606.2:c.1460G= NP_001341535.1:p.Gly487=
NM_001354607.2:c.1412G= NP_001341536.1:p.Gly471=
NM_001354608.2:c.1307G= NP_001341537.1:p.Gly436=
NM_198158.3:c.1142G= NP_937801.1:p.Gly381=
NM_198159.3:c.1463G= NP_937802.1:p.Gly488=
NM_198177.3:c.1415G= NP_937820.1:p.Gly472=
NM_198178.3:c.974G= NP_937821.2:p.Gly325=
NM_000248.4:c.1160G= MANE Plus Clinical NP_000239.1:p.Gly387=
NM_006722.3:c.1460G= NP_006713.1:p.Gly487=