Canonical Allele Identifier: CA1373443568
Gene: MITF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69951875A= , CM000665.2:g.69951875A= GRCh38
NC_000003.11:g.70001026A= , CM000665.1:g.70001026A= GRCh37
NC_000003.10:g.70083716A= NCBI36
NG_011631.1:g.217394A= , LRG_776:g.217394A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.878A= ENSP00000324443.5:p.Asn293=
ENST00000687384.1:c.875A= ENSP00000510225.1:p.Asn292=
ENST00000689390.1:n.1100A=
ENST00000693031.1:c.851A= ENSP00000509845.1:p.Asn284=
ENST00000693549.1:c.878A= ENSP00000509358.1:p.Asn293=
ENST00000314589.10:c.878A= ENSP00000324443.5:p.Asn293=
ENST00000352241.9:c.944A= MANE Select ENSP00000295600.8:p.Asn315=
ENST00000394351.9:c.623A= MANE Plus Clinical ENSP00000377880.3:p.Asn208=
ENST00000448226.9:c.923A= ENSP00000391803.3:p.Asn308=
ENST00000642352.1:c.926A= ENSP00000494105.1:p.Asn309=
ENST00000314557.10:c.605A= ENSP00000324246.6:p.Asn202=
ENST00000314589.9:c.878A= ENSP00000324443.5:p.Asn293=
ENST00000328528.10:c.923A= ENSP00000327867.6:p.Asn308=
ENST00000352241.8:c.926A= ENSP00000295600.7:p.Asn309=
ENST00000394351.7:c.623A= ENSP00000377880.3:p.Asn208=
ENST00000448226.6:c.944A= ENSP00000391803.2:p.Asn315=
ENST00000451708.5:c.896A= ENSP00000398639.1:p.Asn299=
ENST00000472437.5:c.770A= ENSP00000418845.1:p.Asn257=
ENST00000478490.5:c.*270A= ENSP00000433487.1:n.*270A=
ENST00000531774.1:c.437A= ENSP00000435909.1:p.Asn146=
NM_000248.3:c.623A= , LRG_776t1:c.623A= NP_000239.1:p.Asn208=
NM_001184967.1:c.770A= NP_001171896.1:p.Asn257=
NM_006722.2:c.923A= NP_006713.1:p.Asn308=
NM_198158.2:c.605A= NP_937801.1:p.Asn202=
NM_198159.2:c.926A= NP_937802.1:p.Asn309=
NM_198177.2:c.878A= NP_937820.1:p.Asn293=
NM_198178.2:c.437A= NP_937821.2:p.Asn146=
XM_005264754.1:c.944A= XP_005264811.1:p.Asn315=
XM_005264755.2:c.896A= XP_005264812.1:p.Asn299=
XM_006713164.2:c.788A= XP_006713227.1:p.Asn263=
XM_011533722.1:c.941A= XP_011532024.1:p.Asn314=
XM_011533723.1:c.893A= XP_011532025.1:p.Asn298=
XM_011533724.1:c.788A= XP_011532026.1:p.Asn263=
XM_011533725.1:c.776A= XP_011532027.1:p.Asn259=
XM_011533726.1:c.758A= XP_011532028.1:p.Asn253=
NM_001354604.1:c.944A= NP_001341533.1:p.Asn315=
NM_001354605.1:c.941A= NP_001341534.1:p.Asn314=
NM_001354606.1:c.923A= NP_001341535.1:p.Asn308=
NM_001354607.1:c.875A= NP_001341536.1:p.Asn292=
NM_001354608.1:c.770A= NP_001341537.1:p.Asn257=
NM_001184967.2:c.770A= NP_001171896.1:p.Asn257=
NM_001354604.2:c.944A= MANE Select NP_001341533.1:p.Asn315=
NM_001354605.2:c.941A= NP_001341534.1:p.Asn314=
NM_001354606.2:c.923A= NP_001341535.1:p.Asn308=
NM_001354607.2:c.875A= NP_001341536.1:p.Asn292=
NM_001354608.2:c.770A= NP_001341537.1:p.Asn257=
NM_198158.3:c.605A= NP_937801.1:p.Asn202=
NM_198159.3:c.926A= NP_937802.1:p.Asn309=
NM_198177.3:c.878A= NP_937820.1:p.Asn293=
NM_198178.3:c.437A= NP_937821.2:p.Asn146=
NM_000248.4:c.623A= MANE Plus Clinical NP_000239.1:p.Asn208=
NM_006722.3:c.923A= NP_006713.1:p.Asn308=