Canonical Allele Identifier: CA353559821
Gene: MITF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69965094A>G , CM000665.2:g.69965094A>G GRCh38
NC_000003.11:g.70014245A>G , CM000665.1:g.70014245A>G GRCh37
NC_000003.10:g.70096935A>G NCBI36
NG_011631.1:g.230613A>G , LRG_776:g.230613A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.1361A>G ENSP00000324443.5:p.Lys454Arg
ENST00000687384.1:c.1358A>G ENSP00000510225.1:p.Lys453Arg
ENST00000689390.1:n.1583A>G
ENST00000693031.1:c.1334A>G ENSP00000509845.1:p.Lys445Arg
ENST00000693549.1:c.*172A>G ENSP00000509358.1:n.*172A>G
ENST00000314589.10:c.1361A>G ENSP00000324443.5:p.Lys454Arg
ENST00000352241.9:c.1427A>G MANE Select ENSP00000295600.8:p.Lys476Arg
ENST00000394351.9:c.1106A>G MANE Plus Clinical ENSP00000377880.3:p.Lys369Arg
ENST00000448226.9:c.1406A>G ENSP00000391803.3:p.Lys469Arg
ENST00000642352.1:c.1409A>G ENSP00000494105.1:p.Lys470Arg
ENST00000314557.10:c.1088A>G ENSP00000324246.6:p.Lys363Arg
ENST00000314589.9:c.1361A>G ENSP00000324443.5:p.Lys454Arg
ENST00000328528.10:c.1406A>G ENSP00000327867.6:p.Lys469Arg
ENST00000352241.8:c.1409A>G ENSP00000295600.7:p.Lys470Arg
ENST00000394351.7:c.1106A>G ENSP00000377880.3:p.Lys369Arg
ENST00000448226.6:c.1427A>G ENSP00000391803.2:p.Lys476Arg
ENST00000472437.5:c.1253A>G ENSP00000418845.1:p.Lys418Arg
ENST00000478490.5:c.*753A>G ENSP00000433487.1:n.*753A>G
ENST00000531774.1:c.920A>G ENSP00000435909.1:p.Lys307Arg
NM_000248.3:c.1106A>G , LRG_776t1:c.1106A>G NP_000239.1:p.Lys369Arg
NM_001184967.1:c.1253A>G NP_001171896.1:p.Lys418Arg
NM_006722.2:c.1406A>G NP_006713.1:p.Lys469Arg
NM_198158.2:c.1088A>G NP_937801.1:p.Lys363Arg
NM_198159.2:c.1409A>G NP_937802.1:p.Lys470Arg
NM_198177.2:c.1361A>G NP_937820.1:p.Lys454Arg
NM_198178.2:c.920A>G NP_937821.2:p.Lys307Arg
XM_005264754.1:c.1427A>G XP_005264811.1:p.Lys476Arg
XM_005264755.2:c.1379A>G XP_005264812.1:p.Lys460Arg
XM_006713164.2:c.1271A>G XP_006713227.1:p.Lys424Arg
XM_011533722.1:c.1424A>G XP_011532024.1:p.Lys475Arg
XM_011533723.1:c.1376A>G XP_011532025.1:p.Lys459Arg
XM_011533724.1:c.1271A>G XP_011532026.1:p.Lys424Arg
XM_011533725.1:c.1259A>G XP_011532027.1:p.Lys420Arg
XM_011533726.1:c.1241A>G XP_011532028.1:p.Lys414Arg
NM_001354604.1:c.1427A>G NP_001341533.1:p.Lys476Arg
NM_001354605.1:c.1424A>G NP_001341534.1:p.Lys475Arg
NM_001354606.1:c.1406A>G NP_001341535.1:p.Lys469Arg
NM_001354607.1:c.1358A>G NP_001341536.1:p.Lys453Arg
NM_001354608.1:c.1253A>G NP_001341537.1:p.Lys418Arg
NM_001184967.2:c.1253A>G NP_001171896.1:p.Lys418Arg
NM_001354604.2:c.1427A>G MANE Select NP_001341533.1:p.Lys476Arg
NM_001354605.2:c.1424A>G NP_001341534.1:p.Lys475Arg
NM_001354606.2:c.1406A>G NP_001341535.1:p.Lys469Arg
NM_001354607.2:c.1358A>G NP_001341536.1:p.Lys453Arg
NM_001354608.2:c.1253A>G NP_001341537.1:p.Lys418Arg
NM_198158.3:c.1088A>G NP_937801.1:p.Lys363Arg
NM_198159.3:c.1409A>G NP_937802.1:p.Lys470Arg
NM_198177.3:c.1361A>G NP_937820.1:p.Lys454Arg
NM_198178.3:c.920A>G NP_937821.2:p.Lys307Arg
NM_000248.4:c.1106A>G MANE Plus Clinical NP_000239.1:p.Lys369Arg
NM_006722.3:c.1406A>G NP_006713.1:p.Lys469Arg