Canonical Allele Identifier: CA338166445
Gene: PARK7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7977728G>T , CM000663.2:g.7977728G>T GRCh38
NC_000001.10:g.8037788G>T , CM000663.1:g.8037788G>T GRCh37
NC_000001.9:g.7960375G>T NCBI36
NG_008271.1:g.21075G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000338639.10:c.399G>T MANE Select ENSP00000340278.5:p.Met133Ile
ENST00000338639.9:c.399G>T ENSP00000340278.5:p.Met133Ile
ENST00000377488.5:c.399G>T ENSP00000366708.1:p.Met133Ile
ENST00000377491.5:c.399G>T ENSP00000366711.1:p.Met133Ile
ENST00000377493.9:c.339G>T ENSP00000466242.1:p.Met113Ile
ENST00000469225.1:c.282G>T ENSP00000466756.1:p.Met94Ile
ENST00000493373.5:c.399G>T ENSP00000465404.1:p.Met133Ile
ENST00000493678.5:c.399G>T ENSP00000418770.1:p.Met133Ile
NM_001123377.1:c.399G>T NP_001116849.1:p.Met133Ile
NM_007262.4:c.399G>T NP_009193.2:p.Met133Ile
XM_005263424.2:c.399G>T XP_005263481.1:p.Met133Ile
XM_005263424.3:c.399G>T XP_005263481.1:p.Met133Ile
NM_007262.5:c.399G>T MANE Select NP_009193.2:p.Met133Ile
NM_001123377.2:c.399G>T NP_001116849.1:p.Met133Ile