Canonical Allele Identifier: CA2643057000
Gene: PARK7 HGNC NCBI

Linked Data

gnomAD v4: 1-7985283-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7985283C>T , CM000663.2:g.7985283C>T GRCh38
NC_000001.10:g.8045343C>T , CM000663.1:g.8045343C>T GRCh37
NC_000001.9:g.7967930C>T NCBI36
NG_008271.1:g.28630C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000338639.10:c.*229C>T MANE Select ENSP00000340278.5:n.*229C>T
ENST00000493678.5:c.*229C>T ENSP00000418770.1:n.*229C>T
XM_005263424.2:c.*229C>T XP_005263481.1:n.*229C>T
NM_007262.5:c.*229C>T MANE Select NP_009193.2:n.*229C>T
NM_001123377.2:c.*229C>T NP_001116849.1:n.*229C>T