Canonical Allele Identifier: CA346481940
Gene: PCARE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29073660A>G , CM000664.2:g.29073660A>G GRCh38
NC_000002.11:g.29296526A>G , CM000664.1:g.29296526A>G GRCh37
NC_000002.10:g.29150030A>G NCBI36
NG_021427.1:g.5602T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.602T>C MANE Select ENSP00000332809.4:p.Ile201Thr
ENST00000331664.5:c.602T>C ENSP00000332809.4:p.Ile201Thr
NM_001029883.2:c.602T>C NP_001025054.1:p.Ile201Thr
XM_011532826.1:c.602T>C XP_011531128.1:p.Ile201Thr
XR_939901.1:n.185+4493A>G
XR_939902.1:n.173+4505A>G
NM_001029883.3:c.602T>C MANE Select NP_001025054.1:p.Ile201Thr