Canonical Allele Identifier: CA2643056899
Gene: PARK7 HGNC NCBI

Linked Data

gnomAD v4: 1-7985117-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7985117C>A , CM000663.2:g.7985117C>A GRCh38
NC_000001.10:g.8045177C>A , CM000663.1:g.8045177C>A GRCh37
NC_000001.9:g.7967764C>A NCBI36
NG_008271.1:g.28464C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000338639.10:c.*63C>A MANE Select ENSP00000340278.5:n.*63C>A
ENST00000338639.9:c.*63C>A ENSP00000340278.5:n.*63C>A
ENST00000377491.5:c.*63C>A ENSP00000366711.1:n.*63C>A
ENST00000377493.9:c.*63C>A ENSP00000466242.1:n.*63C>A
ENST00000469225.1:c.546C>A ENSP00000466756.1:n.546C>A
ENST00000493678.5:c.*63C>A ENSP00000418770.1:n.*63C>A
NM_001123377.1:c.*63C>A NP_001116849.1:n.*63C>A
NM_007262.4:c.*63C>A NP_009193.2:n.*63C>A
XM_005263424.2:c.*63C>A XP_005263481.1:n.*63C>A
XM_005263424.3:c.*63C>A XP_005263481.1:n.*63C>A
NM_007262.5:c.*63C>A MANE Select NP_009193.2:n.*63C>A
NM_001123377.2:c.*63C>A NP_001116849.1:n.*63C>A