Canonical Allele Identifier: CA1152147976
Gene: PARK7 HGNC NCBI

Linked Data

dbSNP Id: rs1640796163
gnomAD v4: 1-7985234-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7985234T>C , CM000663.2:g.7985234T>C GRCh38
NC_000001.10:g.8045294T>C , CM000663.1:g.8045294T>C GRCh37
NC_000001.9:g.7967881T>C NCBI36
NG_008271.1:g.28581T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000338639.10:c.*180T>C MANE Select ENSP00000340278.5:n.*180T>C
ENST00000338639.9:c.*180T>C ENSP00000340278.5:n.*180T>C
ENST00000377491.5:c.*180T>C ENSP00000366711.1:n.*180T>C
ENST00000377493.9:c.*180T>C ENSP00000466242.1:n.*180T>C
ENST00000469225.1:c.663T>C ENSP00000466756.1:n.663T>C
ENST00000493678.5:c.*180T>C ENSP00000418770.1:n.*180T>C
NM_001123377.1:c.*180T>C NP_001116849.1:n.*180T>C
NM_007262.4:c.*180T>C NP_009193.2:n.*180T>C
XM_005263424.2:c.*180T>C XP_005263481.1:n.*180T>C
XM_005263424.3:c.*180T>C XP_005263481.1:n.*180T>C
NM_007262.5:c.*180T>C MANE Select NP_009193.2:n.*180T>C
NM_001123377.2:c.*180T>C NP_001116849.1:n.*180T>C