Canonical Allele Identifier: CA353561573
Gene: MITF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69951842G>T , CM000665.2:g.69951842G>T GRCh38
NC_000003.11:g.70000993G>T , CM000665.1:g.70000993G>T GRCh37
NC_000003.10:g.70083683G>T NCBI36
NG_011631.1:g.217361G>T , LRG_776:g.217361G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.845G>T ENSP00000324443.5:p.Arg282Ile
ENST00000687384.1:c.842G>T ENSP00000510225.1:p.Arg281Ile
ENST00000689390.1:n.1067G>T
ENST00000693031.1:c.818G>T ENSP00000509845.1:p.Arg273Ile
ENST00000693549.1:c.845G>T ENSP00000509358.1:p.Arg282Ile
ENST00000314589.10:c.845G>T ENSP00000324443.5:p.Arg282Ile
ENST00000352241.9:c.911G>T MANE Select ENSP00000295600.8:p.Arg304Ile
ENST00000394351.9:c.590G>T MANE Plus Clinical ENSP00000377880.3:p.Arg197Ile
ENST00000448226.9:c.890G>T ENSP00000391803.3:p.Arg297Ile
ENST00000642352.1:c.893G>T ENSP00000494105.1:p.Arg298Ile
ENST00000314557.10:c.572G>T ENSP00000324246.6:p.Arg191Ile
ENST00000314589.9:c.845G>T ENSP00000324443.5:p.Arg282Ile
ENST00000328528.10:c.890G>T ENSP00000327867.6:p.Arg297Ile
ENST00000352241.8:c.893G>T ENSP00000295600.7:p.Arg298Ile
ENST00000394351.7:c.590G>T ENSP00000377880.3:p.Arg197Ile
ENST00000448226.6:c.911G>T ENSP00000391803.2:p.Arg304Ile
ENST00000451708.5:c.863G>T ENSP00000398639.1:p.Arg288Ile
ENST00000472437.5:c.737G>T ENSP00000418845.1:p.Arg246Ile
ENST00000478490.5:c.*237G>T ENSP00000433487.1:n.*237G>T
ENST00000531774.1:c.404G>T ENSP00000435909.1:p.Arg135Ile
NM_000248.3:c.590G>T , LRG_776t1:c.590G>T NP_000239.1:p.Arg197Ile
NM_001184967.1:c.737G>T NP_001171896.1:p.Arg246Ile
NM_006722.2:c.890G>T NP_006713.1:p.Arg297Ile
NM_198158.2:c.572G>T NP_937801.1:p.Arg191Ile
NM_198159.2:c.893G>T NP_937802.1:p.Arg298Ile
NM_198177.2:c.845G>T NP_937820.1:p.Arg282Ile
NM_198178.2:c.404G>T NP_937821.2:p.Arg135Ile
XM_005264754.1:c.911G>T XP_005264811.1:p.Arg304Ile
XM_005264755.2:c.863G>T XP_005264812.1:p.Arg288Ile
XM_006713164.2:c.755G>T XP_006713227.1:p.Arg252Ile
XM_011533722.1:c.908G>T XP_011532024.1:p.Arg303Ile
XM_011533723.1:c.860G>T XP_011532025.1:p.Arg287Ile
XM_011533724.1:c.755G>T XP_011532026.1:p.Arg252Ile
XM_011533725.1:c.743G>T XP_011532027.1:p.Arg248Ile
XM_011533726.1:c.725G>T XP_011532028.1:p.Arg242Ile
NM_001354604.1:c.911G>T NP_001341533.1:p.Arg304Ile
NM_001354605.1:c.908G>T NP_001341534.1:p.Arg303Ile
NM_001354606.1:c.890G>T NP_001341535.1:p.Arg297Ile
NM_001354607.1:c.842G>T NP_001341536.1:p.Arg281Ile
NM_001354608.1:c.737G>T NP_001341537.1:p.Arg246Ile
NM_001184967.2:c.737G>T NP_001171896.1:p.Arg246Ile
NM_001354604.2:c.911G>T MANE Select NP_001341533.1:p.Arg304Ile
NM_001354605.2:c.908G>T NP_001341534.1:p.Arg303Ile
NM_001354606.2:c.890G>T NP_001341535.1:p.Arg297Ile
NM_001354607.2:c.842G>T NP_001341536.1:p.Arg281Ile
NM_001354608.2:c.737G>T NP_001341537.1:p.Arg246Ile
NM_198158.3:c.572G>T NP_937801.1:p.Arg191Ile
NM_198159.3:c.893G>T NP_937802.1:p.Arg298Ile
NM_198177.3:c.845G>T NP_937820.1:p.Arg282Ile
NM_198178.3:c.404G>T NP_937821.2:p.Arg135Ile
NM_000248.4:c.590G>T MANE Plus Clinical NP_000239.1:p.Arg197Ile
NM_006722.3:c.890G>T NP_006713.1:p.Arg297Ile