Canonical Allele Identifier: CA123834
Gene: MITF HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14276
dbSNP Id: rs104893746

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69956460C>T , CM000665.2:g.69956460C>T GRCh38
NC_000003.11:g.70005611C>T , CM000665.1:g.70005611C>T GRCh37
NC_000003.10:g.70088301C>T NCBI36
NG_011631.1:g.221979C>T , LRG_776:g.221979C>T

Transcript Alleles

HGVS Amino-acid change
NM_000248.3:c.640C>T , LRG_776t1:c.640C>T NP_000239.1:p.Arg214Ter
NM_001184967.1:c.787C>T VV NP_001171896.1:p.Arg263Ter
NM_006722.2:c.940C>T VV NP_006713.1:p.Arg314Ter
NM_198158.2:c.622C>T VV NP_937801.1:p.Arg208Ter
NM_198159.2:c.943C>T VV NP_937802.1:p.Arg315Ter
NM_198177.2:c.895C>T VV NP_937820.1:p.Arg299Ter
NM_198178.2:c.454C>T VV NP_937821.2:p.Arg152Ter
XM_005264754.1:c.961C>T XP_005264811.1:p.Arg321Ter
XM_005264755.2:c.913C>T XP_005264812.1:p.Arg305Ter
XM_006713164.2:c.805C>T XP_006713227.1:p.Arg269Ter
XM_011533722.1:c.958C>T XP_011532024.1:p.Arg320Ter
XM_011533723.1:c.910C>T XP_011532025.1:p.Arg304Ter
XM_011533724.1:c.805C>T XP_011532026.1:p.Arg269Ter
XM_011533725.1:c.793C>T XP_011532027.1:p.Arg265Ter
XM_011533726.1:c.775C>T XP_011532028.1:p.Arg259Ter
NM_001354604.1:c.961C>T VV NP_001341533.1:p.Arg321Ter
NM_001354605.1:c.958C>T VV NP_001341534.1:p.Arg320Ter
NM_001354606.1:c.940C>T VV NP_001341535.1:p.Arg314Ter
NM_001354607.1:c.892C>T VV NP_001341536.1:p.Arg298Ter
NM_001354608.1:c.787C>T VV NP_001341537.1:p.Arg263Ter
ENST00000314557.10:c.622C>T ENSP00000324246.6:p.Arg208Ter
ENST00000314589.9:c.895C>T ENSP00000324443.5:p.Arg299Ter
ENST00000328528.10:c.940C>T ENSP00000327867.6:p.Arg314Ter
ENST00000352241.8:c.943C>T ENSP00000295600.7:p.Arg315Ter
ENST00000394351.7:c.640C>T ENSP00000377880.3:p.Arg214Ter
ENST00000448226.6:c.961C>T ENSP00000391803.2:p.Arg321Ter
ENST00000451708.5:c.913C>T ENSP00000398639.1:p.Arg305Ter
ENST00000472437.5:c.787C>T ENSP00000418845.1:p.Arg263Ter
ENST00000478490.5:c.*287C>T ENSP00000433487.1:p.=
ENST00000531774.1:n.454C>T ENSP00000435909.1:p.Arg152Ter