Canonical Allele Identifier: CA434306403

Gene: MITF

Linked Data

• MyVariant Identifiers: chr3:g.70005658T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69956507T>G , CM000665.2:g.69956507T>G	GRCh38
NC_000003.11:g.70005658T>G , CM000665.1:g.70005658T>G	GRCh37
NC_000003.10:g.70088348T>G	NCBI36
NG_011631.1:g.222026T>G , LRG_776:g.222026T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.942T>G	ENSP00000324443.5:p.Thr314=
ENST00000687384.1:c.939T>G	ENSP00000510225.1:p.Thr313=
ENST00000689390.1:n.1164T>G
ENST00000693031.1:c.915T>G	ENSP00000509845.1:p.Thr305=
ENST00000693549.1:c.942T>G	ENSP00000509358.1:p.Thr314=
ENST00000314589.10:c.942T>G	ENSP00000324443.5:p.Thr314=
ENST00000352241.9:c.1008T>G MANE Select	ENSP00000295600.8:p.Thr336=
ENST00000394351.9:c.687T>G MANE Plus Clinical	ENSP00000377880.3:p.Thr229=
ENST00000448226.9:c.987T>G	ENSP00000391803.3:p.Thr329=
ENST00000642352.1:c.990T>G	ENSP00000494105.1:p.Thr330=
ENST00000314557.10:c.669T>G	ENSP00000324246.6:p.Thr223=
ENST00000314589.9:c.942T>G	ENSP00000324443.5:p.Thr314=
ENST00000328528.10:c.987T>G	ENSP00000327867.6:p.Thr329=
ENST00000352241.8:c.990T>G	ENSP00000295600.7:p.Thr330=
ENST00000394351.7:c.687T>G	ENSP00000377880.3:p.Thr229=
ENST00000448226.6:c.1008T>G	ENSP00000391803.2:p.Thr336=
ENST00000451708.5:c.960T>G	ENSP00000398639.1:p.Thr320=
ENST00000472437.5:c.834T>G	ENSP00000418845.1:p.Thr278=
ENST00000478490.5:c.*334T>G	ENSP00000433487.1:n.*334T>G
ENST00000531774.1:c.501T>G	ENSP00000435909.1:p.Thr167=
NM_000248.3:c.687T>G , LRG_776t1:c.687T>G	NP_000239.1:p.Thr229=
NM_001184967.1:c.834T>G	NP_001171896.1:p.Thr278=
NM_006722.2:c.987T>G	NP_006713.1:p.Thr329=
NM_198158.2:c.669T>G	NP_937801.1:p.Thr223=
NM_198159.2:c.990T>G	NP_937802.1:p.Thr330=
NM_198177.2:c.942T>G	NP_937820.1:p.Thr314=
NM_198178.2:c.501T>G	NP_937821.2:p.Thr167=
XM_005264754.1:c.1008T>G	XP_005264811.1:p.Thr336=
XM_005264755.2:c.960T>G	XP_005264812.1:p.Thr320=
XM_006713164.2:c.852T>G	XP_006713227.1:p.Thr284=
XM_011533722.1:c.1005T>G	XP_011532024.1:p.Thr335=
XM_011533723.1:c.957T>G	XP_011532025.1:p.Thr319=
XM_011533724.1:c.852T>G	XP_011532026.1:p.Thr284=
XM_011533725.1:c.840T>G	XP_011532027.1:p.Thr280=
XM_011533726.1:c.822T>G	XP_011532028.1:p.Thr274=
NM_001354604.1:c.1008T>G	NP_001341533.1:p.Thr336=
NM_001354605.1:c.1005T>G	NP_001341534.1:p.Thr335=
NM_001354606.1:c.987T>G	NP_001341535.1:p.Thr329=
NM_001354607.1:c.939T>G	NP_001341536.1:p.Thr313=
NM_001354608.1:c.834T>G	NP_001341537.1:p.Thr278=
NM_001184967.2:c.834T>G	NP_001171896.1:p.Thr278=
NM_001354604.2:c.1008T>G MANE Select	NP_001341533.1:p.Thr336=
NM_001354605.2:c.1005T>G	NP_001341534.1:p.Thr335=
NM_001354606.2:c.987T>G	NP_001341535.1:p.Thr329=
NM_001354607.2:c.939T>G	NP_001341536.1:p.Thr313=
NM_001354608.2:c.834T>G	NP_001341537.1:p.Thr278=
NM_198158.3:c.669T>G	NP_937801.1:p.Thr223=
NM_198159.3:c.990T>G	NP_937802.1:p.Thr330=
NM_198177.3:c.942T>G	NP_937820.1:p.Thr314=
NM_198178.3:c.501T>G	NP_937821.2:p.Thr167=
NM_000248.4:c.687T>G MANE Plus Clinical	NP_000239.1:p.Thr229=
NM_006722.3:c.987T>G	NP_006713.1:p.Thr329=