Canonical Allele Identifier: CA353559941
Gene: MITF HGNC NCBI

Linked Data

ClinVar Variation Id: 1319604
ClinVar RCV Id: RCV003237600
dbSNP Id: rs2107553278

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69965153A>G , CM000665.2:g.69965153A>G GRCh38
NC_000003.11:g.70014304A>G , CM000665.1:g.70014304A>G GRCh37
NC_000003.10:g.70096994A>G NCBI36
NG_011631.1:g.230672A>G , LRG_776:g.230672A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.1420A>G ENSP00000324443.5:p.Thr474Ala
ENST00000687384.1:c.1417A>G ENSP00000510225.1:p.Thr473Ala
ENST00000689390.1:n.1642A>G
ENST00000693031.1:c.1393A>G ENSP00000509845.1:p.Thr465Ala
ENST00000693549.1:c.*231A>G ENSP00000509358.1:n.*231A>G
ENST00000314589.10:c.1420A>G ENSP00000324443.5:p.Thr474Ala
ENST00000352241.9:c.1486A>G MANE Select ENSP00000295600.8:p.Thr496Ala
ENST00000394351.9:c.1165A>G MANE Plus Clinical ENSP00000377880.3:p.Thr389Ala
ENST00000448226.9:c.1465A>G ENSP00000391803.3:p.Thr489Ala
ENST00000642352.1:c.1468A>G ENSP00000494105.1:p.Thr490Ala
ENST00000314557.10:c.1147A>G ENSP00000324246.6:p.Thr383Ala
ENST00000314589.9:c.1420A>G ENSP00000324443.5:p.Thr474Ala
ENST00000328528.10:c.1465A>G ENSP00000327867.6:p.Thr489Ala
ENST00000352241.8:c.1468A>G ENSP00000295600.7:p.Thr490Ala
ENST00000394351.7:c.1165A>G ENSP00000377880.3:p.Thr389Ala
ENST00000448226.6:c.1486A>G ENSP00000391803.2:p.Thr496Ala
ENST00000472437.5:c.1312A>G ENSP00000418845.1:p.Thr438Ala
ENST00000478490.5:c.*812A>G ENSP00000433487.1:n.*812A>G
ENST00000531774.1:c.979A>G ENSP00000435909.1:p.Thr327Ala
NM_000248.3:c.1165A>G , LRG_776t1:c.1165A>G NP_000239.1:p.Thr389Ala
NM_001184967.1:c.1312A>G NP_001171896.1:p.Thr438Ala
NM_006722.2:c.1465A>G NP_006713.1:p.Thr489Ala
NM_198158.2:c.1147A>G NP_937801.1:p.Thr383Ala
NM_198159.2:c.1468A>G NP_937802.1:p.Thr490Ala
NM_198177.2:c.1420A>G NP_937820.1:p.Thr474Ala
NM_198178.2:c.979A>G NP_937821.2:p.Thr327Ala
XM_005264754.1:c.1486A>G XP_005264811.1:p.Thr496Ala
XM_005264755.2:c.1438A>G XP_005264812.1:p.Thr480Ala
XM_006713164.2:c.1330A>G XP_006713227.1:p.Thr444Ala
XM_011533722.1:c.1483A>G XP_011532024.1:p.Thr495Ala
XM_011533723.1:c.1435A>G XP_011532025.1:p.Thr479Ala
XM_011533724.1:c.1330A>G XP_011532026.1:p.Thr444Ala
XM_011533725.1:c.1318A>G XP_011532027.1:p.Thr440Ala
XM_011533726.1:c.1300A>G XP_011532028.1:p.Thr434Ala
NM_001354604.1:c.1486A>G NP_001341533.1:p.Thr496Ala
NM_001354605.1:c.1483A>G NP_001341534.1:p.Thr495Ala
NM_001354606.1:c.1465A>G NP_001341535.1:p.Thr489Ala
NM_001354607.1:c.1417A>G NP_001341536.1:p.Thr473Ala
NM_001354608.1:c.1312A>G NP_001341537.1:p.Thr438Ala
NM_001184967.2:c.1312A>G NP_001171896.1:p.Thr438Ala
NM_001354604.2:c.1486A>G MANE Select NP_001341533.1:p.Thr496Ala
NM_001354605.2:c.1483A>G NP_001341534.1:p.Thr495Ala
NM_001354606.2:c.1465A>G NP_001341535.1:p.Thr489Ala
NM_001354607.2:c.1417A>G NP_001341536.1:p.Thr473Ala
NM_001354608.2:c.1312A>G NP_001341537.1:p.Thr438Ala
NM_198158.3:c.1147A>G NP_937801.1:p.Thr383Ala
NM_198159.3:c.1468A>G NP_937802.1:p.Thr490Ala
NM_198177.3:c.1420A>G NP_937820.1:p.Thr474Ala
NM_198178.3:c.979A>G NP_937821.2:p.Thr327Ala
NM_000248.4:c.1165A>G MANE Plus Clinical NP_000239.1:p.Thr389Ala
NM_006722.3:c.1465A>G NP_006713.1:p.Thr489Ala