Canonical Allele Identifier: CA353559629
Gene: MITF HGNC NCBI

Linked Data

gnomAD v4: 3-69965000-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69965000A>G , CM000665.2:g.69965000A>G GRCh38
NC_000003.11:g.70014151A>G , CM000665.1:g.70014151A>G GRCh37
NC_000003.10:g.70096841A>G NCBI36
NG_011631.1:g.230519A>G , LRG_776:g.230519A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.1267A>G ENSP00000324443.5:p.Thr423Ala
ENST00000687384.1:c.1264A>G ENSP00000510225.1:p.Thr422Ala
ENST00000689390.1:n.1489A>G
ENST00000693031.1:c.1240A>G ENSP00000509845.1:p.Thr414Ala
ENST00000693549.1:c.*78A>G ENSP00000509358.1:n.*78A>G
ENST00000314589.10:c.1267A>G ENSP00000324443.5:p.Thr423Ala
ENST00000352241.9:c.1333A>G MANE Select ENSP00000295600.8:p.Thr445Ala
ENST00000394351.9:c.1012A>G MANE Plus Clinical ENSP00000377880.3:p.Thr338Ala
ENST00000448226.9:c.1312A>G ENSP00000391803.3:p.Thr438Ala
ENST00000642352.1:c.1315A>G ENSP00000494105.1:p.Thr439Ala
ENST00000314557.10:c.994A>G ENSP00000324246.6:p.Thr332Ala
ENST00000314589.9:c.1267A>G ENSP00000324443.5:p.Thr423Ala
ENST00000328528.10:c.1312A>G ENSP00000327867.6:p.Thr438Ala
ENST00000352241.8:c.1315A>G ENSP00000295600.7:p.Thr439Ala
ENST00000394351.7:c.1012A>G ENSP00000377880.3:p.Thr338Ala
ENST00000448226.6:c.1333A>G ENSP00000391803.2:p.Thr445Ala
ENST00000472437.5:c.1159A>G ENSP00000418845.1:p.Thr387Ala
ENST00000478490.5:c.*659A>G ENSP00000433487.1:n.*659A>G
ENST00000531774.1:c.826A>G ENSP00000435909.1:p.Thr276Ala
NM_000248.3:c.1012A>G , LRG_776t1:c.1012A>G NP_000239.1:p.Thr338Ala
NM_001184967.1:c.1159A>G NP_001171896.1:p.Thr387Ala
NM_006722.2:c.1312A>G NP_006713.1:p.Thr438Ala
NM_198158.2:c.994A>G NP_937801.1:p.Thr332Ala
NM_198159.2:c.1315A>G NP_937802.1:p.Thr439Ala
NM_198177.2:c.1267A>G NP_937820.1:p.Thr423Ala
NM_198178.2:c.826A>G NP_937821.2:p.Thr276Ala
XM_005264754.1:c.1333A>G XP_005264811.1:p.Thr445Ala
XM_005264755.2:c.1285A>G XP_005264812.1:p.Thr429Ala
XM_006713164.2:c.1177A>G XP_006713227.1:p.Thr393Ala
XM_011533722.1:c.1330A>G XP_011532024.1:p.Thr444Ala
XM_011533723.1:c.1282A>G XP_011532025.1:p.Thr428Ala
XM_011533724.1:c.1177A>G XP_011532026.1:p.Thr393Ala
XM_011533725.1:c.1165A>G XP_011532027.1:p.Thr389Ala
XM_011533726.1:c.1147A>G XP_011532028.1:p.Thr383Ala
NM_001354604.1:c.1333A>G NP_001341533.1:p.Thr445Ala
NM_001354605.1:c.1330A>G NP_001341534.1:p.Thr444Ala
NM_001354606.1:c.1312A>G NP_001341535.1:p.Thr438Ala
NM_001354607.1:c.1264A>G NP_001341536.1:p.Thr422Ala
NM_001354608.1:c.1159A>G NP_001341537.1:p.Thr387Ala
NM_001184967.2:c.1159A>G NP_001171896.1:p.Thr387Ala
NM_001354604.2:c.1333A>G MANE Select NP_001341533.1:p.Thr445Ala
NM_001354605.2:c.1330A>G NP_001341534.1:p.Thr444Ala
NM_001354606.2:c.1312A>G NP_001341535.1:p.Thr438Ala
NM_001354607.2:c.1264A>G NP_001341536.1:p.Thr422Ala
NM_001354608.2:c.1159A>G NP_001341537.1:p.Thr387Ala
NM_198158.3:c.994A>G NP_937801.1:p.Thr332Ala
NM_198159.3:c.1315A>G NP_937802.1:p.Thr439Ala
NM_198177.3:c.1267A>G NP_937820.1:p.Thr423Ala
NM_198178.3:c.826A>G NP_937821.2:p.Thr276Ala
NM_000248.4:c.1012A>G MANE Plus Clinical NP_000239.1:p.Thr338Ala
NM_006722.3:c.1312A>G NP_006713.1:p.Thr438Ala