Canonical Allele Identifier: CA123838
Gene: MITF HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14277
ClinVar RCV Id: RCV000015347
dbSNP Id: rs104893747

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69964880T>C , CM000665.2:g.69964880T>C GRCh38
NC_000003.11:g.70014031T>C , CM000665.1:g.70014031T>C GRCh37
NC_000003.10:g.70096721T>C NCBI36
NG_011631.1:g.230399T>C , LRG_776:g.230399T>C

Transcript Alleles

HGVS Amino-acid change
NM_000248.3:c.892T>C , LRG_776t1:c.892T>C NP_000239.1:p.Ser298Pro
NM_001184967.1:c.1039T>C VV NP_001171896.1:p.Ser347Pro
NM_006722.2:c.1192T>C VV NP_006713.1:p.Ser398Pro
NM_198158.2:c.874T>C VV NP_937801.1:p.Ser292Pro
NM_198159.2:c.1195T>C VV NP_937802.1:p.Ser399Pro
NM_198177.2:c.1147T>C VV NP_937820.1:p.Ser383Pro
NM_198178.2:c.706T>C VV NP_937821.2:p.Ser236Pro
XM_005264754.1:c.1213T>C XP_005264811.1:p.Ser405Pro
XM_005264755.2:c.1165T>C XP_005264812.1:p.Ser389Pro
XM_006713164.2:c.1057T>C XP_006713227.1:p.Ser353Pro
XM_011533722.1:c.1210T>C XP_011532024.1:p.Ser404Pro
XM_011533723.1:c.1162T>C XP_011532025.1:p.Ser388Pro
XM_011533724.1:c.1057T>C XP_011532026.1:p.Ser353Pro
XM_011533725.1:c.1045T>C XP_011532027.1:p.Ser349Pro
XM_011533726.1:c.1027T>C XP_011532028.1:p.Ser343Pro
NM_001354604.1:c.1213T>C VV NP_001341533.1:p.Ser405Pro
NM_001354605.1:c.1210T>C VV NP_001341534.1:p.Ser404Pro
NM_001354606.1:c.1192T>C VV NP_001341535.1:p.Ser398Pro
NM_001354607.1:c.1144T>C VV NP_001341536.1:p.Ser382Pro
NM_001354608.1:c.1039T>C VV NP_001341537.1:p.Ser347Pro
ENST00000314557.10:c.874T>C ENSP00000324246.6:p.Ser292Pro
ENST00000314589.9:c.1147T>C ENSP00000324443.5:p.Ser383Pro
ENST00000328528.10:c.1192T>C ENSP00000327867.6:p.Ser398Pro
ENST00000352241.8:c.1195T>C ENSP00000295600.7:p.Ser399Pro
ENST00000394351.7:c.892T>C ENSP00000377880.3:p.Ser298Pro
ENST00000448226.6:c.1213T>C ENSP00000391803.2:p.Ser405Pro
ENST00000472437.5:c.1039T>C ENSP00000418845.1:p.Ser347Pro
ENST00000478490.5:c.*539T>C ENSP00000433487.1:p.=
ENST00000531774.1:n.706T>C ENSP00000435909.1:p.Ser236Pro