Canonical Allele Identifier: CA338167132

Gene: PARK7

Linked Data

• dbSNP Id: rs1374740019
• gnomAD v2: 1-8045020-G-A
• gnomAD v4: 1-7984960-G-A
• MyVariant Identifiers: chr1:g.8045020G>A (hg19) ; chr1:g.7984960G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7984960G>A , CM000663.2:g.7984960G>A	GRCh38
NC_000001.10:g.8045020G>A , CM000663.1:g.8045020G>A	GRCh37
NC_000001.9:g.7967607G>A	NCBI36
NG_008271.1:g.28307G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.476G>A MANE Select	ENSP00000340278.5:p.Gly159Glu
ENST00000338639.9:c.476G>A	ENSP00000340278.5:p.Gly159Glu
ENST00000377488.5:c.476G>A	ENSP00000366708.1:p.Gly159Glu
ENST00000377491.5:c.476G>A	ENSP00000366711.1:p.Gly159Glu
ENST00000377493.9:c.416G>A	ENSP00000466242.1:p.Gly139Glu
ENST00000469225.1:c.389G>A	ENSP00000466756.1:p.Gly130Glu
ENST00000493373.5:c.476G>A	ENSP00000465404.1:p.Gly159Glu
ENST00000493678.5:c.476G>A	ENSP00000418770.1:p.Gly159Glu
NM_001123377.1:c.476G>A	NP_001116849.1:p.Gly159Glu
NM_007262.4:c.476G>A	NP_009193.2:p.Gly159Glu
XM_005263424.2:c.476G>A	XP_005263481.1:p.Gly159Glu
XM_005263424.3:c.476G>A	XP_005263481.1:p.Gly159Glu
NM_007262.5:c.476G>A MANE Select	NP_009193.2:p.Gly159Glu
NM_001123377.2:c.476G>A	NP_001116849.1:p.Gly159Glu