Canonical Allele Identifier: CA434306303

Gene: MITF

Linked Data

• dbSNP Id: rs1397942558
• gnomAD v2: 3-70001036-G-A
• gnomAD v4: 3-69951885-G-A
• MyVariant Identifiers: chr3:g.70001036G>A (hg19) ; chr3:g.69951885G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69951885G>A , CM000665.2:g.69951885G>A	GRCh38
NC_000003.11:g.70001036G>A , CM000665.1:g.70001036G>A	GRCh37
NC_000003.10:g.70083726G>A	NCBI36
NG_011631.1:g.217404G>A , LRG_776:g.217404G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.888G>A	ENSP00000324443.5:p.Leu296=
ENST00000687384.1:c.885G>A	ENSP00000510225.1:p.Leu295=
ENST00000689390.1:n.1110G>A
ENST00000693031.1:c.861G>A	ENSP00000509845.1:p.Leu287=
ENST00000693549.1:c.888G>A	ENSP00000509358.1:p.Leu296=
ENST00000314589.10:c.888G>A	ENSP00000324443.5:p.Leu296=
ENST00000352241.9:c.954G>A MANE Select	ENSP00000295600.8:p.Leu318=
ENST00000394351.9:c.633G>A MANE Plus Clinical	ENSP00000377880.3:p.Leu211=
ENST00000448226.9:c.933G>A	ENSP00000391803.3:p.Leu311=
ENST00000642352.1:c.936G>A	ENSP00000494105.1:p.Leu312=
ENST00000314557.10:c.615G>A	ENSP00000324246.6:p.Leu205=
ENST00000314589.9:c.888G>A	ENSP00000324443.5:p.Leu296=
ENST00000328528.10:c.933G>A	ENSP00000327867.6:p.Leu311=
ENST00000352241.8:c.936G>A	ENSP00000295600.7:p.Leu312=
ENST00000394351.7:c.633G>A	ENSP00000377880.3:p.Leu211=
ENST00000448226.6:c.954G>A	ENSP00000391803.2:p.Leu318=
ENST00000451708.5:c.906G>A	ENSP00000398639.1:p.Leu302=
ENST00000472437.5:c.780G>A	ENSP00000418845.1:p.Leu260=
ENST00000478490.5:c.*280G>A	ENSP00000433487.1:n.*280G>A
ENST00000531774.1:c.447G>A	ENSP00000435909.1:p.Leu149=
NM_000248.3:c.633G>A , LRG_776t1:c.633G>A	NP_000239.1:p.Leu211=
NM_001184967.1:c.780G>A	NP_001171896.1:p.Leu260=
NM_006722.2:c.933G>A	NP_006713.1:p.Leu311=
NM_198158.2:c.615G>A	NP_937801.1:p.Leu205=
NM_198159.2:c.936G>A	NP_937802.1:p.Leu312=
NM_198177.2:c.888G>A	NP_937820.1:p.Leu296=
NM_198178.2:c.447G>A	NP_937821.2:p.Leu149=
XM_005264754.1:c.954G>A	XP_005264811.1:p.Leu318=
XM_005264755.2:c.906G>A	XP_005264812.1:p.Leu302=
XM_006713164.2:c.798G>A	XP_006713227.1:p.Leu266=
XM_011533722.1:c.951G>A	XP_011532024.1:p.Leu317=
XM_011533723.1:c.903G>A	XP_011532025.1:p.Leu301=
XM_011533724.1:c.798G>A	XP_011532026.1:p.Leu266=
XM_011533725.1:c.786G>A	XP_011532027.1:p.Leu262=
XM_011533726.1:c.768G>A	XP_011532028.1:p.Leu256=
NM_001354604.1:c.954G>A	NP_001341533.1:p.Leu318=
NM_001354605.1:c.951G>A	NP_001341534.1:p.Leu317=
NM_001354606.1:c.933G>A	NP_001341535.1:p.Leu311=
NM_001354607.1:c.885G>A	NP_001341536.1:p.Leu295=
NM_001354608.1:c.780G>A	NP_001341537.1:p.Leu260=
NM_001184967.2:c.780G>A	NP_001171896.1:p.Leu260=
NM_001354604.2:c.954G>A MANE Select	NP_001341533.1:p.Leu318=
NM_001354605.2:c.951G>A	NP_001341534.1:p.Leu317=
NM_001354606.2:c.933G>A	NP_001341535.1:p.Leu311=
NM_001354607.2:c.885G>A	NP_001341536.1:p.Leu295=
NM_001354608.2:c.780G>A	NP_001341537.1:p.Leu260=
NM_198158.3:c.615G>A	NP_937801.1:p.Leu205=
NM_198159.3:c.936G>A	NP_937802.1:p.Leu312=
NM_198177.3:c.888G>A	NP_937820.1:p.Leu296=
NM_198178.3:c.447G>A	NP_937821.2:p.Leu149=
NM_000248.4:c.633G>A MANE Plus Clinical	NP_000239.1:p.Leu211=
NM_006722.3:c.933G>A	NP_006713.1:p.Leu311=