Canonical Allele Identifier: CA17286842
Gene: PARK7 HGNC NCBI

Linked Data

dbSNP Id: rs1024396975
gnomAD v3: 1-7985289-G-T
gnomAD v4: 1-7985289-G-T
MyVariant Identifiers: chr1:g.8045349G>T (hg19) chr1:g.7985289G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7985289G>T , CM000663.2:g.7985289G>T GRCh38
NC_000001.10:g.8045349G>T , CM000663.1:g.8045349G>T GRCh37
NC_000001.9:g.7967936G>T NCBI36
NG_008271.1:g.28636G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000338639.10:c.*235G>T MANE Select ENSP00000340278.5:n.*235G>T
ENST00000493678.5:c.*235G>T ENSP00000418770.1:n.*235G>T
NM_007262.5:c.*235G>T MANE Select NP_009193.2:n.*235G>T
NM_001123377.2:c.*235G>T NP_001116849.1:n.*235G>T
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