Canonical Allele Identifier: CA353561537

Gene: MITF

Linked Data

• MyVariant Identifiers: chr3:g.70000979A>C (hg19) ; chr3:g.69951828A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69951828A>C , CM000665.2:g.69951828A>C	GRCh38
NC_000003.11:g.70000979A>C , CM000665.1:g.70000979A>C	GRCh37
NC_000003.10:g.70083669A>C	NCBI36
NG_011631.1:g.217347A>C , LRG_776:g.217347A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.833-2A>C	ENSP00000324443.5:n.833-2A>C
ENST00000687384.1:c.830-2A>C	ENSP00000510225.1:n.830-2A>C
ENST00000689390.1:n.1055-2A>C
ENST00000693031.1:c.806-2A>C	ENSP00000509845.1:n.806-2A>C
ENST00000693549.1:c.833-2A>C	ENSP00000509358.1:n.833-2A>C
ENST00000314589.10:c.833-2A>C	ENSP00000324443.5:n.833-2A>C
ENST00000352241.9:c.897A>C MANE Select	ENSP00000295600.8:p.Thr299=
ENST00000394351.9:c.576A>C MANE Plus Clinical	ENSP00000377880.3:p.Thr192=
ENST00000448226.9:c.878-2A>C	ENSP00000391803.3:n.878-2A>C
ENST00000642352.1:c.881-2A>C	ENSP00000494105.1:n.881-2A>C
ENST00000314557.10:c.560-2A>C	ENSP00000324246.6:n.560-2A>C
ENST00000314589.9:c.833-2A>C	ENSP00000324443.5:n.833-2A>C
ENST00000328528.10:c.878-2A>C	ENSP00000327867.6:n.878-2A>C
ENST00000352241.8:c.881-2A>C	ENSP00000295600.7:n.881-2A>C
ENST00000394351.7:c.576A>C	ENSP00000377880.3:p.Thr192=
ENST00000448226.6:c.897A>C	ENSP00000391803.2:p.Thr299=
ENST00000451708.5:c.849A>C	ENSP00000398639.1:p.Thr283=
ENST00000472437.5:c.725-2A>C	ENSP00000418845.1:n.725-2A>C
ENST00000478490.5:c.*223A>C	ENSP00000433487.1:n.*223A>C
ENST00000531774.1:c.392-2A>C	ENSP00000435909.1:n.392-2A>C
NM_000248.3:c.576A>C , LRG_776t1:c.576A>C	NP_000239.1:p.Thr192=
NM_001184967.1:c.725-2A>C	NP_001171896.1:n.725-2A>C
NM_006722.2:c.878-2A>C	NP_006713.1:n.878-2A>C
NM_198158.2:c.560-2A>C	NP_937801.1:n.560-2A>C
NM_198159.2:c.881-2A>C	NP_937802.1:n.881-2A>C
NM_198177.2:c.833-2A>C	NP_937820.1:n.833-2A>C
NM_198178.2:c.392-2A>C	NP_937821.2:n.392-2A>C
XM_005264754.1:c.897A>C	XP_005264811.1:p.Thr299=
XM_005264755.2:c.849A>C	XP_005264812.1:p.Thr283=
XM_006713164.2:c.741A>C	XP_006713227.1:p.Thr247=
XM_011533722.1:c.894A>C	XP_011532024.1:p.Thr298=
XM_011533723.1:c.846A>C	XP_011532025.1:p.Thr282=
XM_011533724.1:c.741A>C	XP_011532026.1:p.Thr247=
XM_011533725.1:c.729A>C	XP_011532027.1:p.Thr243=
XM_011533726.1:c.713-2A>C	XP_011532028.1:n.713-2A>C
NM_001354604.1:c.897A>C	NP_001341533.1:p.Thr299=
NM_001354605.1:c.894A>C	NP_001341534.1:p.Thr298=
NM_001354606.1:c.878-2A>C	NP_001341535.1:n.878-2A>C
NM_001354607.1:c.830-2A>C	NP_001341536.1:n.830-2A>C
NM_001354608.1:c.725-2A>C	NP_001341537.1:n.725-2A>C
NM_001184967.2:c.725-2A>C	NP_001171896.1:n.725-2A>C
NM_001354604.2:c.897A>C MANE Select	NP_001341533.1:p.Thr299=
NM_001354605.2:c.894A>C	NP_001341534.1:p.Thr298=
NM_001354606.2:c.878-2A>C	NP_001341535.1:n.878-2A>C
NM_001354607.2:c.830-2A>C	NP_001341536.1:n.830-2A>C
NM_001354608.2:c.725-2A>C	NP_001341537.1:n.725-2A>C
NM_198158.3:c.560-2A>C	NP_937801.1:n.560-2A>C
NM_198159.3:c.881-2A>C	NP_937802.1:n.881-2A>C
NM_198177.3:c.833-2A>C	NP_937820.1:n.833-2A>C
NM_198178.3:c.392-2A>C	NP_937821.2:n.392-2A>C
NM_000248.4:c.576A>C MANE Plus Clinical	NP_000239.1:p.Thr192=
NM_006722.3:c.878-2A>C	NP_006713.1:n.878-2A>C