Canonical Allele Identifier: CA353561639
Gene: MITF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69951871G>T , CM000665.2:g.69951871G>T GRCh38
NC_000003.11:g.70001022G>T , CM000665.1:g.70001022G>T GRCh37
NC_000003.10:g.70083712G>T NCBI36
NG_011631.1:g.217390G>T , LRG_776:g.217390G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.874G>T ENSP00000324443.5:p.Asp292Tyr
ENST00000687384.1:c.871G>T ENSP00000510225.1:p.Asp291Tyr
ENST00000689390.1:n.1096G>T
ENST00000693031.1:c.847G>T ENSP00000509845.1:p.Asp283Tyr
ENST00000693549.1:c.874G>T ENSP00000509358.1:p.Asp292Tyr
ENST00000314589.10:c.874G>T ENSP00000324443.5:p.Asp292Tyr
ENST00000352241.9:c.940G>T MANE Select ENSP00000295600.8:p.Asp314Tyr
ENST00000394351.9:c.619G>T MANE Plus Clinical ENSP00000377880.3:p.Asp207Tyr
ENST00000448226.9:c.919G>T ENSP00000391803.3:p.Asp307Tyr
ENST00000642352.1:c.922G>T ENSP00000494105.1:p.Asp308Tyr
ENST00000314557.10:c.601G>T ENSP00000324246.6:p.Asp201Tyr
ENST00000314589.9:c.874G>T ENSP00000324443.5:p.Asp292Tyr
ENST00000328528.10:c.919G>T ENSP00000327867.6:p.Asp307Tyr
ENST00000352241.8:c.922G>T ENSP00000295600.7:p.Asp308Tyr
ENST00000394351.7:c.619G>T ENSP00000377880.3:p.Asp207Tyr
ENST00000448226.6:c.940G>T ENSP00000391803.2:p.Asp314Tyr
ENST00000451708.5:c.892G>T ENSP00000398639.1:p.Asp298Tyr
ENST00000472437.5:c.766G>T ENSP00000418845.1:p.Asp256Tyr
ENST00000478490.5:c.*266G>T ENSP00000433487.1:n.*266G>T
ENST00000531774.1:c.433G>T ENSP00000435909.1:p.Asp145Tyr
NM_000248.3:c.619G>T , LRG_776t1:c.619G>T NP_000239.1:p.Asp207Tyr
NM_001184967.1:c.766G>T NP_001171896.1:p.Asp256Tyr
NM_006722.2:c.919G>T NP_006713.1:p.Asp307Tyr
NM_198158.2:c.601G>T NP_937801.1:p.Asp201Tyr
NM_198159.2:c.922G>T NP_937802.1:p.Asp308Tyr
NM_198177.2:c.874G>T NP_937820.1:p.Asp292Tyr
NM_198178.2:c.433G>T NP_937821.2:p.Asp145Tyr
XM_005264754.1:c.940G>T XP_005264811.1:p.Asp314Tyr
XM_005264755.2:c.892G>T XP_005264812.1:p.Asp298Tyr
XM_006713164.2:c.784G>T XP_006713227.1:p.Asp262Tyr
XM_011533722.1:c.937G>T XP_011532024.1:p.Asp313Tyr
XM_011533723.1:c.889G>T XP_011532025.1:p.Asp297Tyr
XM_011533724.1:c.784G>T XP_011532026.1:p.Asp262Tyr
XM_011533725.1:c.772G>T XP_011532027.1:p.Asp258Tyr
XM_011533726.1:c.754G>T XP_011532028.1:p.Asp252Tyr
NM_001354604.1:c.940G>T NP_001341533.1:p.Asp314Tyr
NM_001354605.1:c.937G>T NP_001341534.1:p.Asp313Tyr
NM_001354606.1:c.919G>T NP_001341535.1:p.Asp307Tyr
NM_001354607.1:c.871G>T NP_001341536.1:p.Asp291Tyr
NM_001354608.1:c.766G>T NP_001341537.1:p.Asp256Tyr
NM_001184967.2:c.766G>T NP_001171896.1:p.Asp256Tyr
NM_001354604.2:c.940G>T MANE Select NP_001341533.1:p.Asp314Tyr
NM_001354605.2:c.937G>T NP_001341534.1:p.Asp313Tyr
NM_001354606.2:c.919G>T NP_001341535.1:p.Asp307Tyr
NM_001354607.2:c.871G>T NP_001341536.1:p.Asp291Tyr
NM_001354608.2:c.766G>T NP_001341537.1:p.Asp256Tyr
NM_198158.3:c.601G>T NP_937801.1:p.Asp201Tyr
NM_198159.3:c.922G>T NP_937802.1:p.Asp308Tyr
NM_198177.3:c.874G>T NP_937820.1:p.Asp292Tyr
NM_198178.3:c.433G>T NP_937821.2:p.Asp145Tyr
NM_000248.4:c.619G>T MANE Plus Clinical NP_000239.1:p.Asp207Tyr
NM_006722.3:c.919G>T NP_006713.1:p.Asp307Tyr