Canonical Allele Identifier: CA2643056999
Gene: PARK7 HGNC NCBI

Linked Data

gnomAD v4: 1-7985280-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7985280C>A , CM000663.2:g.7985280C>A GRCh38
NC_000001.10:g.8045340C>A , CM000663.1:g.8045340C>A GRCh37
NC_000001.9:g.7967927C>A NCBI36
NG_008271.1:g.28627C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000338639.10:c.*226C>A MANE Select ENSP00000340278.5:n.*226C>A
ENST00000377493.9:c.*226C>A ENSP00000466242.1:n.*226C>A
ENST00000469225.1:c.709C>A ENSP00000466756.1:n.709C>A
ENST00000493678.5:c.*226C>A ENSP00000418770.1:n.*226C>A
NM_001123377.1:c.*226C>A NP_001116849.1:n.*226C>A
NM_007262.4:c.*226C>A NP_009193.2:n.*226C>A
XM_005263424.2:c.*226C>A XP_005263481.1:n.*226C>A
XM_005263424.3:c.*226C>A XP_005263481.1:n.*226C>A
NM_007262.5:c.*226C>A MANE Select NP_009193.2:n.*226C>A
NM_001123377.2:c.*226C>A NP_001116849.1:n.*226C>A