Canonical Allele Identifier: CA434306268

Gene: MITF

Linked Data

• MyVariant Identifiers: chr3:g.70000985T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69951834T>G , CM000665.2:g.69951834T>G	GRCh38
NC_000003.11:g.70000985T>G , CM000665.1:g.70000985T>G	GRCh37
NC_000003.10:g.70083675T>G	NCBI36
NG_011631.1:g.217353T>G , LRG_776:g.217353T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.837T>G	ENSP00000324443.5:p.Ser279=
ENST00000687384.1:c.834T>G	ENSP00000510225.1:p.Ser278=
ENST00000689390.1:n.1059T>G
ENST00000693031.1:c.810T>G	ENSP00000509845.1:p.Ser270=
ENST00000693549.1:c.837T>G	ENSP00000509358.1:p.Ser279=
ENST00000314589.10:c.837T>G	ENSP00000324443.5:p.Ser279=
ENST00000352241.9:c.903T>G MANE Select	ENSP00000295600.8:p.Ser301=
ENST00000394351.9:c.582T>G MANE Plus Clinical	ENSP00000377880.3:p.Ser194=
ENST00000448226.9:c.882T>G	ENSP00000391803.3:p.Ser294=
ENST00000642352.1:c.885T>G	ENSP00000494105.1:p.Ser295=
ENST00000314557.10:c.564T>G	ENSP00000324246.6:p.Ser188=
ENST00000314589.9:c.837T>G	ENSP00000324443.5:p.Ser279=
ENST00000328528.10:c.882T>G	ENSP00000327867.6:p.Ser294=
ENST00000352241.8:c.885T>G	ENSP00000295600.7:p.Ser295=
ENST00000394351.7:c.582T>G	ENSP00000377880.3:p.Ser194=
ENST00000448226.6:c.903T>G	ENSP00000391803.2:p.Ser301=
ENST00000451708.5:c.855T>G	ENSP00000398639.1:p.Ser285=
ENST00000472437.5:c.729T>G	ENSP00000418845.1:p.Ser243=
ENST00000478490.5:c.*229T>G	ENSP00000433487.1:n.*229T>G
ENST00000531774.1:c.396T>G	ENSP00000435909.1:p.Ser132=
NM_000248.3:c.582T>G , LRG_776t1:c.582T>G	NP_000239.1:p.Ser194=
NM_001184967.1:c.729T>G	NP_001171896.1:p.Ser243=
NM_006722.2:c.882T>G	NP_006713.1:p.Ser294=
NM_198158.2:c.564T>G	NP_937801.1:p.Ser188=
NM_198159.2:c.885T>G	NP_937802.1:p.Ser295=
NM_198177.2:c.837T>G	NP_937820.1:p.Ser279=
NM_198178.2:c.396T>G	NP_937821.2:p.Ser132=
XM_005264754.1:c.903T>G	XP_005264811.1:p.Ser301=
XM_005264755.2:c.855T>G	XP_005264812.1:p.Ser285=
XM_006713164.2:c.747T>G	XP_006713227.1:p.Ser249=
XM_011533722.1:c.900T>G	XP_011532024.1:p.Ser300=
XM_011533723.1:c.852T>G	XP_011532025.1:p.Ser284=
XM_011533724.1:c.747T>G	XP_011532026.1:p.Ser249=
XM_011533725.1:c.735T>G	XP_011532027.1:p.Ser245=
XM_011533726.1:c.717T>G	XP_011532028.1:p.Ser239=
NM_001354604.1:c.903T>G	NP_001341533.1:p.Ser301=
NM_001354605.1:c.900T>G	NP_001341534.1:p.Ser300=
NM_001354606.1:c.882T>G	NP_001341535.1:p.Ser294=
NM_001354607.1:c.834T>G	NP_001341536.1:p.Ser278=
NM_001354608.1:c.729T>G	NP_001341537.1:p.Ser243=
NM_001184967.2:c.729T>G	NP_001171896.1:p.Ser243=
NM_001354604.2:c.903T>G MANE Select	NP_001341533.1:p.Ser301=
NM_001354605.2:c.900T>G	NP_001341534.1:p.Ser300=
NM_001354606.2:c.882T>G	NP_001341535.1:p.Ser294=
NM_001354607.2:c.834T>G	NP_001341536.1:p.Ser278=
NM_001354608.2:c.729T>G	NP_001341537.1:p.Ser243=
NM_198158.3:c.564T>G	NP_937801.1:p.Ser188=
NM_198159.3:c.885T>G	NP_937802.1:p.Ser295=
NM_198177.3:c.837T>G	NP_937820.1:p.Ser279=
NM_198178.3:c.396T>G	NP_937821.2:p.Ser132=
NM_000248.4:c.582T>G MANE Plus Clinical	NP_000239.1:p.Ser194=
NM_006722.3:c.882T>G	NP_006713.1:p.Ser294=