Canonical Allele Identifier: CA353559673
Gene: MITF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69965022A>T , CM000665.2:g.69965022A>T GRCh38
NC_000003.11:g.70014173A>T , CM000665.1:g.70014173A>T GRCh37
NC_000003.10:g.70096863A>T NCBI36
NG_011631.1:g.230541A>T , LRG_776:g.230541A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.1289A>T ENSP00000324443.5:p.Asp430Val
ENST00000687384.1:c.1286A>T ENSP00000510225.1:p.Asp429Val
ENST00000689390.1:n.1511A>T
ENST00000693031.1:c.1262A>T ENSP00000509845.1:p.Asp421Val
ENST00000693549.1:c.*100A>T ENSP00000509358.1:n.*100A>T
ENST00000314589.10:c.1289A>T ENSP00000324443.5:p.Asp430Val
ENST00000352241.9:c.1355A>T MANE Select ENSP00000295600.8:p.Asp452Val
ENST00000394351.9:c.1034A>T MANE Plus Clinical ENSP00000377880.3:p.Asp345Val
ENST00000448226.9:c.1334A>T ENSP00000391803.3:p.Asp445Val
ENST00000642352.1:c.1337A>T ENSP00000494105.1:p.Asp446Val
ENST00000314557.10:c.1016A>T ENSP00000324246.6:p.Asp339Val
ENST00000314589.9:c.1289A>T ENSP00000324443.5:p.Asp430Val
ENST00000328528.10:c.1334A>T ENSP00000327867.6:p.Asp445Val
ENST00000352241.8:c.1337A>T ENSP00000295600.7:p.Asp446Val
ENST00000394351.7:c.1034A>T ENSP00000377880.3:p.Asp345Val
ENST00000448226.6:c.1355A>T ENSP00000391803.2:p.Asp452Val
ENST00000472437.5:c.1181A>T ENSP00000418845.1:p.Asp394Val
ENST00000478490.5:c.*681A>T ENSP00000433487.1:n.*681A>T
ENST00000531774.1:c.848A>T ENSP00000435909.1:p.Asp283Val
NM_000248.3:c.1034A>T , LRG_776t1:c.1034A>T NP_000239.1:p.Asp345Val
NM_001184967.1:c.1181A>T NP_001171896.1:p.Asp394Val
NM_006722.2:c.1334A>T NP_006713.1:p.Asp445Val
NM_198158.2:c.1016A>T NP_937801.1:p.Asp339Val
NM_198159.2:c.1337A>T NP_937802.1:p.Asp446Val
NM_198177.2:c.1289A>T NP_937820.1:p.Asp430Val
NM_198178.2:c.848A>T NP_937821.2:p.Asp283Val
XM_005264754.1:c.1355A>T XP_005264811.1:p.Asp452Val
XM_005264755.2:c.1307A>T XP_005264812.1:p.Asp436Val
XM_006713164.2:c.1199A>T XP_006713227.1:p.Asp400Val
XM_011533722.1:c.1352A>T XP_011532024.1:p.Asp451Val
XM_011533723.1:c.1304A>T XP_011532025.1:p.Asp435Val
XM_011533724.1:c.1199A>T XP_011532026.1:p.Asp400Val
XM_011533725.1:c.1187A>T XP_011532027.1:p.Asp396Val
XM_011533726.1:c.1169A>T XP_011532028.1:p.Asp390Val
NM_001354604.1:c.1355A>T NP_001341533.1:p.Asp452Val
NM_001354605.1:c.1352A>T NP_001341534.1:p.Asp451Val
NM_001354606.1:c.1334A>T NP_001341535.1:p.Asp445Val
NM_001354607.1:c.1286A>T NP_001341536.1:p.Asp429Val
NM_001354608.1:c.1181A>T NP_001341537.1:p.Asp394Val
NM_001184967.2:c.1181A>T NP_001171896.1:p.Asp394Val
NM_001354604.2:c.1355A>T MANE Select NP_001341533.1:p.Asp452Val
NM_001354605.2:c.1352A>T NP_001341534.1:p.Asp451Val
NM_001354606.2:c.1334A>T NP_001341535.1:p.Asp445Val
NM_001354607.2:c.1286A>T NP_001341536.1:p.Asp429Val
NM_001354608.2:c.1181A>T NP_001341537.1:p.Asp394Val
NM_198158.3:c.1016A>T NP_937801.1:p.Asp339Val
NM_198159.3:c.1337A>T NP_937802.1:p.Asp446Val
NM_198177.3:c.1289A>T NP_937820.1:p.Asp430Val
NM_198178.3:c.848A>T NP_937821.2:p.Asp283Val
NM_000248.4:c.1034A>T MANE Plus Clinical NP_000239.1:p.Asp345Val
NM_006722.3:c.1334A>T NP_006713.1:p.Asp445Val