Canonical Allele Identifier: CA1373440735
Gene: MITF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69949126T= , CM000665.2:g.69949126T= GRCh38
NC_000003.11:g.69998277T= , CM000665.1:g.69998277T= GRCh37
NC_000003.10:g.70080967T= NCBI36
NG_011631.1:g.214645T= , LRG_776:g.214645T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.790T= ENSP00000324443.5:p.Ser264=
ENST00000687384.1:c.787T= ENSP00000510225.1:p.Ser263=
ENST00000689390.1:n.1012T=
ENST00000693031.1:c.763T= ENSP00000509845.1:p.Ser255=
ENST00000693549.1:c.790T= ENSP00000509358.1:p.Ser264=
ENST00000314589.10:c.790T= ENSP00000324443.5:p.Ser264=
ENST00000352241.9:c.838T= MANE Select ENSP00000295600.8:p.Ser280=
ENST00000394351.9:c.517T= MANE Plus Clinical ENSP00000377880.3:p.Ser173=
ENST00000448226.9:c.835T= ENSP00000391803.3:p.Ser279=
ENST00000642352.1:c.838T= ENSP00000494105.1:p.Ser280=
ENST00000314557.10:c.517T= ENSP00000324246.6:p.Ser173=
ENST00000314589.9:c.790T= ENSP00000324443.5:p.Ser264=
ENST00000328528.10:c.835T= ENSP00000327867.6:p.Ser279=
ENST00000352241.8:c.838T= ENSP00000295600.7:p.Ser280=
ENST00000394351.7:c.517T= ENSP00000377880.3:p.Ser173=
ENST00000448226.6:c.838T= ENSP00000391803.2:p.Ser280=
ENST00000451708.5:c.790T= ENSP00000398639.1:p.Ser264=
ENST00000472437.5:c.682T= ENSP00000418845.1:p.Ser228=
ENST00000478490.5:c.*164T= ENSP00000433487.1:n.*164T=
ENST00000531774.1:c.349T= ENSP00000435909.1:p.Ser117=
NM_000248.3:c.517T= , LRG_776t1:c.517T= NP_000239.1:p.Ser173=
NM_001184967.1:c.682T= NP_001171896.1:p.Ser228=
NM_006722.2:c.835T= NP_006713.1:p.Ser279=
NM_198158.2:c.517T= NP_937801.1:p.Ser173=
NM_198159.2:c.838T= NP_937802.1:p.Ser280=
NM_198177.2:c.790T= NP_937820.1:p.Ser264=
NM_198178.2:c.349T= NP_937821.2:p.Ser117=
XM_005264754.1:c.838T= XP_005264811.1:p.Ser280=
XM_005264755.2:c.790T= XP_005264812.1:p.Ser264=
XM_006713164.2:c.682T= XP_006713227.1:p.Ser228=
XM_011533722.1:c.835T= XP_011532024.1:p.Ser279=
XM_011533723.1:c.787T= XP_011532025.1:p.Ser263=
XM_011533724.1:c.682T= XP_011532026.1:p.Ser228=
XM_011533725.1:c.670T= XP_011532027.1:p.Ser224=
XM_011533726.1:c.670T= XP_011532028.1:p.Ser224=
NM_001354604.1:c.838T= NP_001341533.1:p.Ser280=
NM_001354605.1:c.835T= NP_001341534.1:p.Ser279=
NM_001354606.1:c.835T= NP_001341535.1:p.Ser279=
NM_001354607.1:c.787T= NP_001341536.1:p.Ser263=
NM_001354608.1:c.682T= NP_001341537.1:p.Ser228=
NM_001184967.2:c.682T= NP_001171896.1:p.Ser228=
NM_001354604.2:c.838T= MANE Select NP_001341533.1:p.Ser280=
NM_001354605.2:c.835T= NP_001341534.1:p.Ser279=
NM_001354606.2:c.835T= NP_001341535.1:p.Ser279=
NM_001354607.2:c.787T= NP_001341536.1:p.Ser263=
NM_001354608.2:c.682T= NP_001341537.1:p.Ser228=
NM_198158.3:c.517T= NP_937801.1:p.Ser173=
NM_198159.3:c.838T= NP_937802.1:p.Ser280=
NM_198177.3:c.790T= NP_937820.1:p.Ser264=
NM_198178.3:c.349T= NP_937821.2:p.Ser117=
NM_000248.4:c.517T= MANE Plus Clinical NP_000239.1:p.Ser173=
NM_006722.3:c.835T= NP_006713.1:p.Ser279=