Canonical Allele Identifier: CA998307815
Gene: PARK7 HGNC NCBI

Linked Data

dbSNP Id: rs1640796825
gnomAD v3: 1-7985281-T-C
gnomAD v4: 1-7985281-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7985281T>C , CM000663.2:g.7985281T>C GRCh38
NC_000001.10:g.8045341T>C , CM000663.1:g.8045341T>C GRCh37
NC_000001.9:g.7967928T>C NCBI36
NG_008271.1:g.28628T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000338639.10:c.*227T>C MANE Select ENSP00000340278.5:n.*227T>C
ENST00000377493.9:c.*227T>C ENSP00000466242.1:n.*227T>C
ENST00000469225.1:c.710T>C ENSP00000466756.1:n.710T>C
ENST00000493678.5:c.*227T>C ENSP00000418770.1:n.*227T>C
NM_001123377.1:c.*227T>C NP_001116849.1:n.*227T>C
NM_007262.4:c.*227T>C NP_009193.2:n.*227T>C
XM_005263424.2:c.*227T>C XP_005263481.1:n.*227T>C
XM_005263424.3:c.*227T>C XP_005263481.1:n.*227T>C
NM_007262.5:c.*227T>C MANE Select NP_009193.2:n.*227T>C
NM_001123377.2:c.*227T>C NP_001116849.1:n.*227T>C
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