Canonical Allele Identifier: CA346476052
Gene: PCARE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071288T>A , CM000664.2:g.29071288T>A GRCh38
NC_000002.11:g.29294154T>A , CM000664.1:g.29294154T>A GRCh37
NC_000002.10:g.29147658T>A NCBI36
NG_021427.1:g.7974A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000331664.6:c.2974A>T MANE Select ENSP00000332809.4:p.Arg992Ter
ENST00000331664.5:c.2974A>T ENSP00000332809.4:p.Arg992Ter
NM_001029883.2:c.2974A>T NP_001025054.1:p.Arg992Ter
XM_011532826.1:c.2974A>T XP_011531128.1:p.Arg992Ter
XR_939901.1:n.185+2121T>A
XR_939902.1:n.173+2133T>A
NM_001029883.3:c.2974A>T MANE Select NP_001025054.1:p.Arg992Ter