Canonical Allele Identifier: CA1139655936

Gene: PARK7

Linked Data

• ClinVar Variation Id: 875477
• ClinVar RCV Id: RCV001099356
• dbSNP Id: rs1640796249
• gnomAD v4: 1-7985239-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7985239T>A , CM000663.2:g.7985239T>A	GRCh38
NC_000001.10:g.8045299T>A , CM000663.1:g.8045299T>A	GRCh37
NC_000001.9:g.7967886T>A	NCBI36
NG_008271.1:g.28586T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.*185T>A MANE Select	ENSP00000340278.5:n.*185T>A
ENST00000338639.9:c.*185T>A	ENSP00000340278.5:n.*185T>A
ENST00000377491.5:c.*185T>A	ENSP00000366711.1:n.*185T>A
ENST00000377493.9:c.*185T>A	ENSP00000466242.1:n.*185T>A
ENST00000469225.1:c.668T>A	ENSP00000466756.1:n.668T>A
ENST00000493678.5:c.*185T>A	ENSP00000418770.1:n.*185T>A
NM_001123377.1:c.*185T>A	NP_001116849.1:n.*185T>A
NM_007262.4:c.*185T>A	NP_009193.2:n.*185T>A
XM_005263424.2:c.*185T>A	XP_005263481.1:n.*185T>A
XM_005263424.3:c.*185T>A	XP_005263481.1:n.*185T>A
NM_007262.5:c.*185T>A MANE Select	NP_009193.2:n.*185T>A
NM_001123377.2:c.*185T>A	NP_001116849.1:n.*185T>A