Canonical Allele Identifier: CA1152147923

Gene: PARK7

Linked Data

• dbSNP Id: rs1640795317
• gnomAD v4: 1-7985180-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7985180G>C , CM000663.2:g.7985180G>C	GRCh38
NC_000001.10:g.8045240G>C , CM000663.1:g.8045240G>C	GRCh37
NC_000001.9:g.7967827G>C	NCBI36
NG_008271.1:g.28527G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.*126G>C MANE Select	ENSP00000340278.5:n.*126G>C
ENST00000338639.9:c.*126G>C	ENSP00000340278.5:n.*126G>C
ENST00000377491.5:c.*126G>C	ENSP00000366711.1:n.*126G>C
ENST00000377493.9:c.*126G>C	ENSP00000466242.1:n.*126G>C
ENST00000469225.1:c.609G>C	ENSP00000466756.1:n.609G>C
ENST00000493678.5:c.*126G>C	ENSP00000418770.1:n.*126G>C
NM_001123377.1:c.*126G>C	NP_001116849.1:n.*126G>C
NM_007262.4:c.*126G>C	NP_009193.2:n.*126G>C
XM_005263424.2:c.*126G>C	XP_005263481.1:n.*126G>C
XM_005263424.3:c.*126G>C	XP_005263481.1:n.*126G>C
NM_007262.5:c.*126G>C MANE Select	NP_009193.2:n.*126G>C
NM_001123377.2:c.*126G>C	NP_001116849.1:n.*126G>C