Canonical Allele Identifier: CA1152148003
Gene: PARK7 HGNC NCBI

Linked Data

dbSNP Id: rs1553125048
gnomAD v4: 1-7985257-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7985257G>A , CM000663.2:g.7985257G>A GRCh38
NC_000001.10:g.8045317G>A , CM000663.1:g.8045317G>A GRCh37
NC_000001.9:g.7967904G>A NCBI36
NG_008271.1:g.28604G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000338639.10:c.*203G>A MANE Select ENSP00000340278.5:n.*203G>A
ENST00000338639.9:c.*203G>A ENSP00000340278.5:n.*203G>A
ENST00000377493.9:c.*203G>A ENSP00000466242.1:n.*203G>A
ENST00000469225.1:c.686G>A ENSP00000466756.1:n.686G>A
ENST00000493678.5:c.*203G>A ENSP00000418770.1:n.*203G>A
NM_001123377.1:c.*203G>A NP_001116849.1:n.*203G>A
NM_007262.4:c.*203G>A NP_009193.2:n.*203G>A
XM_005263424.2:c.*203G>A XP_005263481.1:n.*203G>A
XM_005263424.3:c.*203G>A XP_005263481.1:n.*203G>A
NM_007262.5:c.*203G>A MANE Select NP_009193.2:n.*203G>A
NM_001123377.2:c.*203G>A NP_001116849.1:n.*203G>A