Canonical Allele Identifier: CA2490650

Gene: MITF

Linked Data

• dbSNP Id: rs751890826
• ExAC: 3:70014197 A / G
• gnomAD v2: 3-70014197-A-G
• gnomAD v4: 3-69965046-A-G
• MyVariant Identifiers: chr3:g.70014197A>G (hg19) ; chr3:g.69965046A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965046A>G , CM000665.2:g.69965046A>G	GRCh38
NC_000003.11:g.70014197A>G , CM000665.1:g.70014197A>G	GRCh37
NC_000003.10:g.70096887A>G	NCBI36
NG_011631.1:g.230565A>G , LRG_776:g.230565A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1313A>G	ENSP00000324443.5:p.Asn438Ser
ENST00000687384.1:c.1310A>G	ENSP00000510225.1:p.Asn437Ser
ENST00000689390.1:n.1535A>G
ENST00000693031.1:c.1286A>G	ENSP00000509845.1:p.Asn429Ser
ENST00000693549.1:c.*124A>G	ENSP00000509358.1:n.*124A>G
ENST00000314589.10:c.1313A>G	ENSP00000324443.5:p.Asn438Ser
ENST00000352241.9:c.1379A>G MANE Select	ENSP00000295600.8:p.Asn460Ser
ENST00000394351.9:c.1058A>G MANE Plus Clinical	ENSP00000377880.3:p.Asn353Ser
ENST00000448226.9:c.1358A>G	ENSP00000391803.3:p.Asn453Ser
ENST00000642352.1:c.1361A>G	ENSP00000494105.1:p.Asn454Ser
ENST00000314557.10:c.1040A>G	ENSP00000324246.6:p.Asn347Ser
ENST00000314589.9:c.1313A>G	ENSP00000324443.5:p.Asn438Ser
ENST00000328528.10:c.1358A>G	ENSP00000327867.6:p.Asn453Ser
ENST00000352241.8:c.1361A>G	ENSP00000295600.7:p.Asn454Ser
ENST00000394351.7:c.1058A>G	ENSP00000377880.3:p.Asn353Ser
ENST00000448226.6:c.1379A>G	ENSP00000391803.2:p.Asn460Ser
ENST00000472437.5:c.1205A>G	ENSP00000418845.1:p.Asn402Ser
ENST00000478490.5:c.*705A>G	ENSP00000433487.1:n.*705A>G
ENST00000531774.1:c.872A>G	ENSP00000435909.1:p.Asn291Ser
NM_000248.3:c.1058A>G , LRG_776t1:c.1058A>G	NP_000239.1:p.Asn353Ser
NM_001184967.1:c.1205A>G	NP_001171896.1:p.Asn402Ser
NM_006722.2:c.1358A>G	NP_006713.1:p.Asn453Ser
NM_198158.2:c.1040A>G	NP_937801.1:p.Asn347Ser
NM_198159.2:c.1361A>G	NP_937802.1:p.Asn454Ser
NM_198177.2:c.1313A>G	NP_937820.1:p.Asn438Ser
NM_198178.2:c.872A>G	NP_937821.2:p.Asn291Ser
XM_005264754.1:c.1379A>G	XP_005264811.1:p.Asn460Ser
XM_005264755.2:c.1331A>G	XP_005264812.1:p.Asn444Ser
XM_006713164.2:c.1223A>G	XP_006713227.1:p.Asn408Ser
XM_011533722.1:c.1376A>G	XP_011532024.1:p.Asn459Ser
XM_011533723.1:c.1328A>G	XP_011532025.1:p.Asn443Ser
XM_011533724.1:c.1223A>G	XP_011532026.1:p.Asn408Ser
XM_011533725.1:c.1211A>G	XP_011532027.1:p.Asn404Ser
XM_011533726.1:c.1193A>G	XP_011532028.1:p.Asn398Ser
NM_001354604.1:c.1379A>G	NP_001341533.1:p.Asn460Ser
NM_001354605.1:c.1376A>G	NP_001341534.1:p.Asn459Ser
NM_001354606.1:c.1358A>G	NP_001341535.1:p.Asn453Ser
NM_001354607.1:c.1310A>G	NP_001341536.1:p.Asn437Ser
NM_001354608.1:c.1205A>G	NP_001341537.1:p.Asn402Ser
NM_001184967.2:c.1205A>G	NP_001171896.1:p.Asn402Ser
NM_001354604.2:c.1379A>G MANE Select	NP_001341533.1:p.Asn460Ser
NM_001354605.2:c.1376A>G	NP_001341534.1:p.Asn459Ser
NM_001354606.2:c.1358A>G	NP_001341535.1:p.Asn453Ser
NM_001354607.2:c.1310A>G	NP_001341536.1:p.Asn437Ser
NM_001354608.2:c.1205A>G	NP_001341537.1:p.Asn402Ser
NM_198158.3:c.1040A>G	NP_937801.1:p.Asn347Ser
NM_198159.3:c.1361A>G	NP_937802.1:p.Asn454Ser
NM_198177.3:c.1313A>G	NP_937820.1:p.Asn438Ser
NM_198178.3:c.872A>G	NP_937821.2:p.Asn291Ser
NM_000248.4:c.1058A>G MANE Plus Clinical	NP_000239.1:p.Asn353Ser
NM_006722.3:c.1358A>G	NP_006713.1:p.Asn453Ser