Canonical Allele Identifier: CA353561736
Gene: MITF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69956476A>T , CM000665.2:g.69956476A>T GRCh38
NC_000003.11:g.70005627A>T , CM000665.1:g.70005627A>T GRCh37
NC_000003.10:g.70088317A>T NCBI36
NG_011631.1:g.221995A>T , LRG_776:g.221995A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.911A>T ENSP00000324443.5:p.Asn304Ile
ENST00000687384.1:c.908A>T ENSP00000510225.1:p.Asn303Ile
ENST00000689390.1:n.1133A>T
ENST00000693031.1:c.884A>T ENSP00000509845.1:p.Asn295Ile
ENST00000693549.1:c.911A>T ENSP00000509358.1:p.Asn304Ile
ENST00000314589.10:c.911A>T ENSP00000324443.5:p.Asn304Ile
ENST00000352241.9:c.977A>T MANE Select ENSP00000295600.8:p.Asn326Ile
ENST00000394351.9:c.656A>T MANE Plus Clinical ENSP00000377880.3:p.Asn219Ile
ENST00000448226.9:c.956A>T ENSP00000391803.3:p.Asn319Ile
ENST00000642352.1:c.959A>T ENSP00000494105.1:p.Asn320Ile
ENST00000314557.10:c.638A>T ENSP00000324246.6:p.Asn213Ile
ENST00000314589.9:c.911A>T ENSP00000324443.5:p.Asn304Ile
ENST00000328528.10:c.956A>T ENSP00000327867.6:p.Asn319Ile
ENST00000352241.8:c.959A>T ENSP00000295600.7:p.Asn320Ile
ENST00000394351.7:c.656A>T ENSP00000377880.3:p.Asn219Ile
ENST00000448226.6:c.977A>T ENSP00000391803.2:p.Asn326Ile
ENST00000451708.5:c.929A>T ENSP00000398639.1:p.Asn310Ile
ENST00000472437.5:c.803A>T ENSP00000418845.1:p.Asn268Ile
ENST00000478490.5:c.*303A>T ENSP00000433487.1:n.*303A>T
ENST00000531774.1:c.470A>T ENSP00000435909.1:p.Asn157Ile
NM_000248.3:c.656A>T , LRG_776t1:c.656A>T NP_000239.1:p.Asn219Ile
NM_001184967.1:c.803A>T NP_001171896.1:p.Asn268Ile
NM_006722.2:c.956A>T NP_006713.1:p.Asn319Ile
NM_198158.2:c.638A>T NP_937801.1:p.Asn213Ile
NM_198159.2:c.959A>T NP_937802.1:p.Asn320Ile
NM_198177.2:c.911A>T NP_937820.1:p.Asn304Ile
NM_198178.2:c.470A>T NP_937821.2:p.Asn157Ile
XM_005264754.1:c.977A>T XP_005264811.1:p.Asn326Ile
XM_005264755.2:c.929A>T XP_005264812.1:p.Asn310Ile
XM_006713164.2:c.821A>T XP_006713227.1:p.Asn274Ile
XM_011533722.1:c.974A>T XP_011532024.1:p.Asn325Ile
XM_011533723.1:c.926A>T XP_011532025.1:p.Asn309Ile
XM_011533724.1:c.821A>T XP_011532026.1:p.Asn274Ile
XM_011533725.1:c.809A>T XP_011532027.1:p.Asn270Ile
XM_011533726.1:c.791A>T XP_011532028.1:p.Asn264Ile
NM_001354604.1:c.977A>T NP_001341533.1:p.Asn326Ile
NM_001354605.1:c.974A>T NP_001341534.1:p.Asn325Ile
NM_001354606.1:c.956A>T NP_001341535.1:p.Asn319Ile
NM_001354607.1:c.908A>T NP_001341536.1:p.Asn303Ile
NM_001354608.1:c.803A>T NP_001341537.1:p.Asn268Ile
NM_001184967.2:c.803A>T NP_001171896.1:p.Asn268Ile
NM_001354604.2:c.977A>T MANE Select NP_001341533.1:p.Asn326Ile
NM_001354605.2:c.974A>T NP_001341534.1:p.Asn325Ile
NM_001354606.2:c.956A>T NP_001341535.1:p.Asn319Ile
NM_001354607.2:c.908A>T NP_001341536.1:p.Asn303Ile
NM_001354608.2:c.803A>T NP_001341537.1:p.Asn268Ile
NM_198158.3:c.638A>T NP_937801.1:p.Asn213Ile
NM_198159.3:c.959A>T NP_937802.1:p.Asn320Ile
NM_198177.3:c.911A>T NP_937820.1:p.Asn304Ile
NM_198178.3:c.470A>T NP_937821.2:p.Asn157Ile
NM_000248.4:c.656A>T MANE Plus Clinical NP_000239.1:p.Asn219Ile
NM_006722.3:c.956A>T NP_006713.1:p.Asn319Ile