Canonical Allele Identifier: CA338167084
Gene: PARK7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7984936T>G , CM000663.2:g.7984936T>G GRCh38
NC_000001.10:g.8044996T>G , CM000663.1:g.8044996T>G GRCh37
NC_000001.9:g.7967583T>G NCBI36
NG_008271.1:g.28283T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000338639.10:c.452T>G MANE Select ENSP00000340278.5:p.Leu151Arg
ENST00000338639.9:c.452T>G ENSP00000340278.5:p.Leu151Arg
ENST00000377488.5:c.452T>G ENSP00000366708.1:p.Leu151Arg
ENST00000377491.5:c.452T>G ENSP00000366711.1:p.Leu151Arg
ENST00000377493.9:c.392T>G ENSP00000466242.1:p.Leu131Arg
ENST00000469225.1:c.365T>G ENSP00000466756.1:p.Leu122Arg
ENST00000493373.5:c.452T>G ENSP00000465404.1:p.Leu151Arg
ENST00000493678.5:c.452T>G ENSP00000418770.1:p.Leu151Arg
NM_001123377.1:c.452T>G NP_001116849.1:p.Leu151Arg
NM_007262.4:c.452T>G NP_009193.2:p.Leu151Arg
XM_005263424.2:c.452T>G XP_005263481.1:p.Leu151Arg
XM_005263424.3:c.452T>G XP_005263481.1:p.Leu151Arg
NM_007262.5:c.452T>G MANE Select NP_009193.2:p.Leu151Arg
NM_001123377.2:c.452T>G NP_001116849.1:p.Leu151Arg