Canonical Allele Identifier: CA353561452
Gene: MITF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69949154A>C , CM000665.2:g.69949154A>C GRCh38
NC_000003.11:g.69998305A>C , CM000665.1:g.69998305A>C GRCh37
NC_000003.10:g.70080995A>C NCBI36
NG_011631.1:g.214673A>C , LRG_776:g.214673A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.818A>C ENSP00000324443.5:p.Lys273Thr
ENST00000687384.1:c.815A>C ENSP00000510225.1:p.Lys272Thr
ENST00000689390.1:n.1040A>C
ENST00000693031.1:c.791A>C ENSP00000509845.1:p.Lys264Thr
ENST00000693549.1:c.818A>C ENSP00000509358.1:p.Lys273Thr
ENST00000314589.10:c.818A>C ENSP00000324443.5:p.Lys273Thr
ENST00000352241.9:c.866A>C MANE Select ENSP00000295600.8:p.Lys289Thr
ENST00000394351.9:c.545A>C MANE Plus Clinical ENSP00000377880.3:p.Lys182Thr
ENST00000448226.9:c.863A>C ENSP00000391803.3:p.Lys288Thr
ENST00000642352.1:c.866A>C ENSP00000494105.1:p.Lys289Thr
ENST00000314557.10:c.545A>C ENSP00000324246.6:p.Lys182Thr
ENST00000314589.9:c.818A>C ENSP00000324443.5:p.Lys273Thr
ENST00000328528.10:c.863A>C ENSP00000327867.6:p.Lys288Thr
ENST00000352241.8:c.866A>C ENSP00000295600.7:p.Lys289Thr
ENST00000394351.7:c.545A>C ENSP00000377880.3:p.Lys182Thr
ENST00000448226.6:c.866A>C ENSP00000391803.2:p.Lys289Thr
ENST00000451708.5:c.818A>C ENSP00000398639.1:p.Lys273Thr
ENST00000472437.5:c.710A>C ENSP00000418845.1:p.Lys237Thr
ENST00000478490.5:c.*192A>C ENSP00000433487.1:n.*192A>C
ENST00000531774.1:c.377A>C ENSP00000435909.1:p.Lys126Thr
NM_000248.3:c.545A>C , LRG_776t1:c.545A>C NP_000239.1:p.Lys182Thr
NM_001184967.1:c.710A>C NP_001171896.1:p.Lys237Thr
NM_006722.2:c.863A>C NP_006713.1:p.Lys288Thr
NM_198158.2:c.545A>C NP_937801.1:p.Lys182Thr
NM_198159.2:c.866A>C NP_937802.1:p.Lys289Thr
NM_198177.2:c.818A>C NP_937820.1:p.Lys273Thr
NM_198178.2:c.377A>C NP_937821.2:p.Lys126Thr
XM_005264754.1:c.866A>C XP_005264811.1:p.Lys289Thr
XM_005264755.2:c.818A>C XP_005264812.1:p.Lys273Thr
XM_006713164.2:c.710A>C XP_006713227.1:p.Lys237Thr
XM_011533722.1:c.863A>C XP_011532024.1:p.Lys288Thr
XM_011533723.1:c.815A>C XP_011532025.1:p.Lys272Thr
XM_011533724.1:c.710A>C XP_011532026.1:p.Lys237Thr
XM_011533725.1:c.698A>C XP_011532027.1:p.Lys233Thr
XM_011533726.1:c.698A>C XP_011532028.1:p.Lys233Thr
NM_001354604.1:c.866A>C NP_001341533.1:p.Lys289Thr
NM_001354605.1:c.863A>C NP_001341534.1:p.Lys288Thr
NM_001354606.1:c.863A>C NP_001341535.1:p.Lys288Thr
NM_001354607.1:c.815A>C NP_001341536.1:p.Lys272Thr
NM_001354608.1:c.710A>C NP_001341537.1:p.Lys237Thr
NM_001184967.2:c.710A>C NP_001171896.1:p.Lys237Thr
NM_001354604.2:c.866A>C MANE Select NP_001341533.1:p.Lys289Thr
NM_001354605.2:c.863A>C NP_001341534.1:p.Lys288Thr
NM_001354606.2:c.863A>C NP_001341535.1:p.Lys288Thr
NM_001354607.2:c.815A>C NP_001341536.1:p.Lys272Thr
NM_001354608.2:c.710A>C NP_001341537.1:p.Lys237Thr
NM_198158.3:c.545A>C NP_937801.1:p.Lys182Thr
NM_198159.3:c.866A>C NP_937802.1:p.Lys289Thr
NM_198177.3:c.818A>C NP_937820.1:p.Lys273Thr
NM_198178.3:c.377A>C NP_937821.2:p.Lys126Thr
NM_000248.4:c.545A>C MANE Plus Clinical NP_000239.1:p.Lys182Thr
NM_006722.3:c.863A>C NP_006713.1:p.Lys288Thr