Canonical Allele Identifier: CA434305526

Gene: MITF

Linked Data

• gnomAD v3: 3-69965191-C-A
• gnomAD v4: 3-69965191-C-A
• MyVariant Identifiers: chr3:g.70014342C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965191C>A , CM000665.2:g.69965191C>A	GRCh38
NC_000003.11:g.70014342C>A , CM000665.1:g.70014342C>A	GRCh37
NC_000003.10:g.70097032C>A	NCBI36
NG_011631.1:g.230710C>A , LRG_776:g.230710C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1458C>A	ENSP00000324443.5:p.Ser486=
ENST00000687384.1:c.1455C>A	ENSP00000510225.1:p.Ser485=
ENST00000689390.1:n.1680C>A
ENST00000693031.1:c.1431C>A	ENSP00000509845.1:p.Ser477=
ENST00000693549.1:c.*269C>A	ENSP00000509358.1:n.*269C>A
ENST00000314589.10:c.1458C>A	ENSP00000324443.5:p.Ser486=
ENST00000352241.9:c.1524C>A MANE Select	ENSP00000295600.8:p.Ser508=
ENST00000394351.9:c.1203C>A MANE Plus Clinical	ENSP00000377880.3:p.Ser401=
ENST00000448226.9:c.1503C>A	ENSP00000391803.3:p.Ser501=
ENST00000642352.1:c.1506C>A	ENSP00000494105.1:p.Ser502=
ENST00000314557.10:c.1185C>A	ENSP00000324246.6:p.Ser395=
ENST00000314589.9:c.1458C>A	ENSP00000324443.5:p.Ser486=
ENST00000328528.10:c.1503C>A	ENSP00000327867.6:p.Ser501=
ENST00000352241.8:c.1506C>A	ENSP00000295600.7:p.Ser502=
ENST00000394351.7:c.1203C>A	ENSP00000377880.3:p.Ser401=
ENST00000448226.6:c.1524C>A	ENSP00000391803.2:p.Ser508=
ENST00000472437.5:c.1350C>A	ENSP00000418845.1:p.Ser450=
ENST00000478490.5:c.*850C>A	ENSP00000433487.1:n.*850C>A
ENST00000531774.1:c.1017C>A	ENSP00000435909.1:p.Ser339=
NM_000248.3:c.1203C>A , LRG_776t1:c.1203C>A	NP_000239.1:p.Ser401=
NM_001184967.1:c.1350C>A	NP_001171896.1:p.Ser450=
NM_006722.2:c.1503C>A	NP_006713.1:p.Ser501=
NM_198158.2:c.1185C>A	NP_937801.1:p.Ser395=
NM_198159.2:c.1506C>A	NP_937802.1:p.Ser502=
NM_198177.2:c.1458C>A	NP_937820.1:p.Ser486=
NM_198178.2:c.1017C>A	NP_937821.2:p.Ser339=
XM_005264754.1:c.1524C>A	XP_005264811.1:p.Ser508=
XM_005264755.2:c.1476C>A	XP_005264812.1:p.Ser492=
XM_006713164.2:c.1368C>A	XP_006713227.1:p.Ser456=
XM_011533722.1:c.1521C>A	XP_011532024.1:p.Ser507=
XM_011533723.1:c.1473C>A	XP_011532025.1:p.Ser491=
XM_011533724.1:c.1368C>A	XP_011532026.1:p.Ser456=
XM_011533725.1:c.1356C>A	XP_011532027.1:p.Ser452=
XM_011533726.1:c.1338C>A	XP_011532028.1:p.Ser446=
NM_001354604.1:c.1524C>A	NP_001341533.1:p.Ser508=
NM_001354605.1:c.1521C>A	NP_001341534.1:p.Ser507=
NM_001354606.1:c.1503C>A	NP_001341535.1:p.Ser501=
NM_001354607.1:c.1455C>A	NP_001341536.1:p.Ser485=
NM_001354608.1:c.1350C>A	NP_001341537.1:p.Ser450=
NM_001184967.2:c.1350C>A	NP_001171896.1:p.Ser450=
NM_001354604.2:c.1524C>A MANE Select	NP_001341533.1:p.Ser508=
NM_001354605.2:c.1521C>A	NP_001341534.1:p.Ser507=
NM_001354606.2:c.1503C>A	NP_001341535.1:p.Ser501=
NM_001354607.2:c.1455C>A	NP_001341536.1:p.Ser485=
NM_001354608.2:c.1350C>A	NP_001341537.1:p.Ser450=
NM_198158.3:c.1185C>A	NP_937801.1:p.Ser395=
NM_198159.3:c.1506C>A	NP_937802.1:p.Ser502=
NM_198177.3:c.1458C>A	NP_937820.1:p.Ser486=
NM_198178.3:c.1017C>A	NP_937821.2:p.Ser339=
NM_000248.4:c.1203C>A MANE Plus Clinical	NP_000239.1:p.Ser401=
NM_006722.3:c.1503C>A	NP_006713.1:p.Ser501=