Canonical Allele Identifier: CA353561609
Gene: MITF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69951859A>T , CM000665.2:g.69951859A>T GRCh38
NC_000003.11:g.70001010A>T , CM000665.1:g.70001010A>T GRCh37
NC_000003.10:g.70083700A>T NCBI36
NG_011631.1:g.217378A>T , LRG_776:g.217378A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.862A>T ENSP00000324443.5:p.Arg288Trp
ENST00000687384.1:c.859A>T ENSP00000510225.1:p.Arg287Trp
ENST00000689390.1:n.1084A>T
ENST00000693031.1:c.835A>T ENSP00000509845.1:p.Arg279Trp
ENST00000693549.1:c.862A>T ENSP00000509358.1:p.Arg288Trp
ENST00000314589.10:c.862A>T ENSP00000324443.5:p.Arg288Trp
ENST00000352241.9:c.928A>T MANE Select ENSP00000295600.8:p.Arg310Trp
ENST00000394351.9:c.607A>T MANE Plus Clinical ENSP00000377880.3:p.Arg203Trp
ENST00000448226.9:c.907A>T ENSP00000391803.3:p.Arg303Trp
ENST00000642352.1:c.910A>T ENSP00000494105.1:p.Arg304Trp
ENST00000314557.10:c.589A>T ENSP00000324246.6:p.Arg197Trp
ENST00000314589.9:c.862A>T ENSP00000324443.5:p.Arg288Trp
ENST00000328528.10:c.907A>T ENSP00000327867.6:p.Arg303Trp
ENST00000352241.8:c.910A>T ENSP00000295600.7:p.Arg304Trp
ENST00000394351.7:c.607A>T ENSP00000377880.3:p.Arg203Trp
ENST00000448226.6:c.928A>T ENSP00000391803.2:p.Arg310Trp
ENST00000451708.5:c.880A>T ENSP00000398639.1:p.Arg294Trp
ENST00000472437.5:c.754A>T ENSP00000418845.1:p.Arg252Trp
ENST00000478490.5:c.*254A>T ENSP00000433487.1:n.*254A>T
ENST00000531774.1:c.421A>T ENSP00000435909.1:p.Arg141Trp
NM_000248.3:c.607A>T , LRG_776t1:c.607A>T NP_000239.1:p.Arg203Trp
NM_001184967.1:c.754A>T NP_001171896.1:p.Arg252Trp
NM_006722.2:c.907A>T NP_006713.1:p.Arg303Trp
NM_198158.2:c.589A>T NP_937801.1:p.Arg197Trp
NM_198159.2:c.910A>T NP_937802.1:p.Arg304Trp
NM_198177.2:c.862A>T NP_937820.1:p.Arg288Trp
NM_198178.2:c.421A>T NP_937821.2:p.Arg141Trp
XM_005264754.1:c.928A>T XP_005264811.1:p.Arg310Trp
XM_005264755.2:c.880A>T XP_005264812.1:p.Arg294Trp
XM_006713164.2:c.772A>T XP_006713227.1:p.Arg258Trp
XM_011533722.1:c.925A>T XP_011532024.1:p.Arg309Trp
XM_011533723.1:c.877A>T XP_011532025.1:p.Arg293Trp
XM_011533724.1:c.772A>T XP_011532026.1:p.Arg258Trp
XM_011533725.1:c.760A>T XP_011532027.1:p.Arg254Trp
XM_011533726.1:c.742A>T XP_011532028.1:p.Arg248Trp
NM_001354604.1:c.928A>T NP_001341533.1:p.Arg310Trp
NM_001354605.1:c.925A>T NP_001341534.1:p.Arg309Trp
NM_001354606.1:c.907A>T NP_001341535.1:p.Arg303Trp
NM_001354607.1:c.859A>T NP_001341536.1:p.Arg287Trp
NM_001354608.1:c.754A>T NP_001341537.1:p.Arg252Trp
NM_001184967.2:c.754A>T NP_001171896.1:p.Arg252Trp
NM_001354604.2:c.928A>T MANE Select NP_001341533.1:p.Arg310Trp
NM_001354605.2:c.925A>T NP_001341534.1:p.Arg309Trp
NM_001354606.2:c.907A>T NP_001341535.1:p.Arg303Trp
NM_001354607.2:c.859A>T NP_001341536.1:p.Arg287Trp
NM_001354608.2:c.754A>T NP_001341537.1:p.Arg252Trp
NM_198158.3:c.589A>T NP_937801.1:p.Arg197Trp
NM_198159.3:c.910A>T NP_937802.1:p.Arg304Trp
NM_198177.3:c.862A>T NP_937820.1:p.Arg288Trp
NM_198178.3:c.421A>T NP_937821.2:p.Arg141Trp
NM_000248.4:c.607A>T MANE Plus Clinical NP_000239.1:p.Arg203Trp
NM_006722.3:c.907A>T NP_006713.1:p.Arg303Trp