Canonical Allele Identifier: CA1152147810
Gene: PARK7 HGNC NCBI

Linked Data

dbSNP Id: rs1640793596
gnomAD v4: 1-7985106-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7985106C>G , CM000663.2:g.7985106C>G GRCh38
NC_000001.10:g.8045166C>G , CM000663.1:g.8045166C>G GRCh37
NC_000001.9:g.7967753C>G NCBI36
NG_008271.1:g.28453C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000338639.10:c.*52C>G MANE Select ENSP00000340278.5:n.*52C>G
ENST00000338639.9:c.*52C>G ENSP00000340278.5:n.*52C>G
ENST00000377488.5:c.*52C>G ENSP00000366708.1:n.*52C>G
ENST00000377491.5:c.*52C>G ENSP00000366711.1:n.*52C>G
ENST00000377493.9:c.*52C>G ENSP00000466242.1:n.*52C>G
ENST00000469225.1:c.535C>G ENSP00000466756.1:n.535C>G
ENST00000493678.5:c.*52C>G ENSP00000418770.1:n.*52C>G
NM_001123377.1:c.*52C>G NP_001116849.1:n.*52C>G
NM_007262.4:c.*52C>G NP_009193.2:n.*52C>G
XM_005263424.2:c.*52C>G XP_005263481.1:n.*52C>G
XM_005263424.3:c.*52C>G XP_005263481.1:n.*52C>G
NM_007262.5:c.*52C>G MANE Select NP_009193.2:n.*52C>G
NM_001123377.2:c.*52C>G NP_001116849.1:n.*52C>G