Canonical Allele Identifier: CA338167101
Gene: PARK7 HGNC NCBI

Linked Data

dbSNP Id: rs1185581139
gnomAD v3: 1-7984945-C-A
gnomAD v4: 1-7984945-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7984945C>A , CM000663.2:g.7984945C>A GRCh38
NC_000001.10:g.8045005C>A , CM000663.1:g.8045005C>A GRCh37
NC_000001.9:g.7967592C>A NCBI36
NG_008271.1:g.28292C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000338639.10:c.461C>A MANE Select ENSP00000340278.5:p.Thr154Lys
ENST00000338639.9:c.461C>A ENSP00000340278.5:p.Thr154Lys
ENST00000377488.5:c.461C>A ENSP00000366708.1:p.Thr154Lys
ENST00000377491.5:c.461C>A ENSP00000366711.1:p.Thr154Lys
ENST00000377493.9:c.401C>A ENSP00000466242.1:p.Thr134Lys
ENST00000469225.1:c.374C>A ENSP00000466756.1:p.Thr125Lys
ENST00000493373.5:c.461C>A ENSP00000465404.1:p.Thr154Lys
ENST00000493678.5:c.461C>A ENSP00000418770.1:p.Thr154Lys
NM_001123377.1:c.461C>A NP_001116849.1:p.Thr154Lys
NM_007262.4:c.461C>A NP_009193.2:p.Thr154Lys
XM_005263424.2:c.461C>A XP_005263481.1:p.Thr154Lys
XM_005263424.3:c.461C>A XP_005263481.1:p.Thr154Lys
NM_007262.5:c.461C>A MANE Select NP_009193.2:p.Thr154Lys
NM_001123377.2:c.461C>A NP_001116849.1:p.Thr154Lys