Canonical Allele Identifier: CA254094
Gene: PARK7 HGNC NCBI

Linked Data

ClinVar Variation Id: 7066
ClinVar RCV Id: RCV000007482
dbSNP Id: rs74315352
gnomAD v2: 1-8044990-A-C
gnomAD v3: 1-7984930-A-C
gnomAD v4: 1-7984930-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7984930A>C , CM000663.2:g.7984930A>C GRCh38
NC_000001.10:g.8044990A>C , CM000663.1:g.8044990A>C GRCh37
NC_000001.9:g.7967577A>C NCBI36
NG_008271.1:g.28277A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000338639.10:c.446A>C MANE Select ENSP00000340278.5:p.Asp149Ala
ENST00000338639.9:c.446A>C ENSP00000340278.5:p.Asp149Ala
ENST00000377488.5:c.446A>C ENSP00000366708.1:p.Asp149Ala
ENST00000377491.5:c.446A>C ENSP00000366711.1:p.Asp149Ala
ENST00000377493.9:c.386A>C ENSP00000466242.1:p.Asp129Ala
ENST00000469225.1:c.359A>C ENSP00000466756.1:p.Asp120Ala
ENST00000493373.5:c.446A>C ENSP00000465404.1:p.Asp149Ala
ENST00000493678.5:c.446A>C ENSP00000418770.1:p.Asp149Ala
NM_001123377.1:c.446A>C NP_001116849.1:p.Asp149Ala
NM_007262.4:c.446A>C NP_009193.2:p.Asp149Ala
XM_005263424.2:c.446A>C XP_005263481.1:p.Asp149Ala
XM_005263424.3:c.446A>C XP_005263481.1:p.Asp149Ala
NM_007262.5:c.446A>C MANE Select NP_009193.2:p.Asp149Ala
NM_001123377.2:c.446A>C NP_001116849.1:p.Asp149Ala