Canonical Allele Identifier: CA346472874
Gene: PCARE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070687C>G , CM000664.2:g.29070687C>G GRCh38
NC_000002.11:g.29293553C>G , CM000664.1:g.29293553C>G GRCh37
NC_000002.10:g.29147057C>G NCBI36
NG_021427.1:g.8575G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3575G>C MANE Select ENSP00000332809.4:p.Arg1192Thr
ENST00000331664.5:c.3575G>C ENSP00000332809.4:p.Arg1192Thr
NM_001029883.2:c.3575G>C NP_001025054.1:p.Arg1192Thr
XM_011532826.1:c.3575G>C XP_011531128.1:p.Arg1192Thr
XR_939901.1:n.185+1520C>G
XR_939902.1:n.173+1532C>G
NM_001029883.3:c.3575G>C MANE Select NP_001025054.1:p.Arg1192Thr