Canonical Allele Identifier: CA338167284
Gene: PARK7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7985034C>A , CM000663.2:g.7985034C>A GRCh38
NC_000001.10:g.8045094C>A , CM000663.1:g.8045094C>A GRCh37
NC_000001.9:g.7967681C>A NCBI36
NG_008271.1:g.28381C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000338639.10:c.550C>A MANE Select ENSP00000340278.5:p.Pro184Thr
ENST00000338639.9:c.550C>A ENSP00000340278.5:p.Pro184Thr
ENST00000377488.5:c.550C>A ENSP00000366708.1:p.Pro184Thr
ENST00000377491.5:c.550C>A ENSP00000366711.1:p.Pro184Thr
ENST00000377493.9:c.490C>A ENSP00000466242.1:p.Pro164Thr
ENST00000469225.1:c.463C>A ENSP00000466756.1:p.Pro155Thr
ENST00000493373.5:c.550C>A ENSP00000465404.1:p.Pro184Thr
ENST00000493678.5:c.550C>A ENSP00000418770.1:p.Pro184Thr
NM_001123377.1:c.550C>A NP_001116849.1:p.Pro184Thr
NM_007262.4:c.550C>A NP_009193.2:p.Pro184Thr
XM_005263424.2:c.550C>A XP_005263481.1:p.Pro184Thr
XM_005263424.3:c.550C>A XP_005263481.1:p.Pro184Thr
NM_007262.5:c.550C>A MANE Select NP_009193.2:p.Pro184Thr
NM_001123377.2:c.550C>A NP_001116849.1:p.Pro184Thr