Canonical Allele Identifier: CA353561695
Gene: MITF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69956458A>G , CM000665.2:g.69956458A>G GRCh38
NC_000003.11:g.70005609A>G , CM000665.1:g.70005609A>G GRCh37
NC_000003.10:g.70088299A>G NCBI36
NG_011631.1:g.221977A>G , LRG_776:g.221977A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.893A>G ENSP00000324443.5:p.Glu298Gly
ENST00000687384.1:c.890A>G ENSP00000510225.1:p.Glu297Gly
ENST00000689390.1:n.1115A>G
ENST00000693031.1:c.866A>G ENSP00000509845.1:p.Glu289Gly
ENST00000693549.1:c.893A>G ENSP00000509358.1:p.Glu298Gly
ENST00000314589.10:c.893A>G ENSP00000324443.5:p.Glu298Gly
ENST00000352241.9:c.959A>G MANE Select ENSP00000295600.8:p.Glu320Gly
ENST00000394351.9:c.638A>G MANE Plus Clinical ENSP00000377880.3:p.Glu213Gly
ENST00000448226.9:c.938A>G ENSP00000391803.3:p.Glu313Gly
ENST00000642352.1:c.941A>G ENSP00000494105.1:p.Glu314Gly
ENST00000314557.10:c.620A>G ENSP00000324246.6:p.Glu207Gly
ENST00000314589.9:c.893A>G ENSP00000324443.5:p.Glu298Gly
ENST00000328528.10:c.938A>G ENSP00000327867.6:p.Glu313Gly
ENST00000352241.8:c.941A>G ENSP00000295600.7:p.Glu314Gly
ENST00000394351.7:c.638A>G ENSP00000377880.3:p.Glu213Gly
ENST00000448226.6:c.959A>G ENSP00000391803.2:p.Glu320Gly
ENST00000451708.5:c.911A>G ENSP00000398639.1:p.Glu304Gly
ENST00000472437.5:c.785A>G ENSP00000418845.1:p.Glu262Gly
ENST00000478490.5:c.*285A>G ENSP00000433487.1:n.*285A>G
ENST00000531774.1:c.452A>G ENSP00000435909.1:p.Glu151Gly
NM_000248.3:c.638A>G , LRG_776t1:c.638A>G NP_000239.1:p.Glu213Gly
NM_001184967.1:c.785A>G NP_001171896.1:p.Glu262Gly
NM_006722.2:c.938A>G NP_006713.1:p.Glu313Gly
NM_198158.2:c.620A>G NP_937801.1:p.Glu207Gly
NM_198159.2:c.941A>G NP_937802.1:p.Glu314Gly
NM_198177.2:c.893A>G NP_937820.1:p.Glu298Gly
NM_198178.2:c.452A>G NP_937821.2:p.Glu151Gly
XM_005264754.1:c.959A>G XP_005264811.1:p.Glu320Gly
XM_005264755.2:c.911A>G XP_005264812.1:p.Glu304Gly
XM_006713164.2:c.803A>G XP_006713227.1:p.Glu268Gly
XM_011533722.1:c.956A>G XP_011532024.1:p.Glu319Gly
XM_011533723.1:c.908A>G XP_011532025.1:p.Glu303Gly
XM_011533724.1:c.803A>G XP_011532026.1:p.Glu268Gly
XM_011533725.1:c.791A>G XP_011532027.1:p.Glu264Gly
XM_011533726.1:c.773A>G XP_011532028.1:p.Glu258Gly
NM_001354604.1:c.959A>G NP_001341533.1:p.Glu320Gly
NM_001354605.1:c.956A>G NP_001341534.1:p.Glu319Gly
NM_001354606.1:c.938A>G NP_001341535.1:p.Glu313Gly
NM_001354607.1:c.890A>G NP_001341536.1:p.Glu297Gly
NM_001354608.1:c.785A>G NP_001341537.1:p.Glu262Gly
NM_001184967.2:c.785A>G NP_001171896.1:p.Glu262Gly
NM_001354604.2:c.959A>G MANE Select NP_001341533.1:p.Glu320Gly
NM_001354605.2:c.956A>G NP_001341534.1:p.Glu319Gly
NM_001354606.2:c.938A>G NP_001341535.1:p.Glu313Gly
NM_001354607.2:c.890A>G NP_001341536.1:p.Glu297Gly
NM_001354608.2:c.785A>G NP_001341537.1:p.Glu262Gly
NM_198158.3:c.620A>G NP_937801.1:p.Glu207Gly
NM_198159.3:c.941A>G NP_937802.1:p.Glu314Gly
NM_198177.3:c.893A>G NP_937820.1:p.Glu298Gly
NM_198178.3:c.452A>G NP_937821.2:p.Glu151Gly
NM_000248.4:c.638A>G MANE Plus Clinical NP_000239.1:p.Glu213Gly
NM_006722.3:c.938A>G NP_006713.1:p.Glu313Gly