Canonical Allele Identifier: CA1152147848
Gene: PARK7 HGNC NCBI

Linked Data

dbSNP Id: rs1640794029
gnomAD v4: 1-7985132-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7985132A>C , CM000663.2:g.7985132A>C GRCh38
NC_000001.10:g.8045192A>C , CM000663.1:g.8045192A>C GRCh37
NC_000001.9:g.7967779A>C NCBI36
NG_008271.1:g.28479A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000338639.10:c.*78A>C MANE Select ENSP00000340278.5:n.*78A>C
ENST00000338639.9:c.*78A>C ENSP00000340278.5:n.*78A>C
ENST00000377491.5:c.*78A>C ENSP00000366711.1:n.*78A>C
ENST00000377493.9:c.*78A>C ENSP00000466242.1:n.*78A>C
ENST00000469225.1:c.561A>C ENSP00000466756.1:n.561A>C
ENST00000493678.5:c.*78A>C ENSP00000418770.1:n.*78A>C
NM_001123377.1:c.*78A>C NP_001116849.1:n.*78A>C
NM_007262.4:c.*78A>C NP_009193.2:n.*78A>C
XM_005263424.2:c.*78A>C XP_005263481.1:n.*78A>C
XM_005263424.3:c.*78A>C XP_005263481.1:n.*78A>C
NM_007262.5:c.*78A>C MANE Select NP_009193.2:n.*78A>C
NM_001123377.2:c.*78A>C NP_001116849.1:n.*78A>C