Canonical Allele Identifier: CA346474557
Gene: PCARE HGNC NCBI

Linked Data

gnomAD v4: 2-29070729-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070729C>G , CM000664.2:g.29070729C>G GRCh38
NC_000002.11:g.29293595C>G , CM000664.1:g.29293595C>G GRCh37
NC_000002.10:g.29147099C>G NCBI36
NG_021427.1:g.8533G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3533G>C MANE Select ENSP00000332809.4:p.Arg1178Thr
ENST00000331664.5:c.3533G>C ENSP00000332809.4:p.Arg1178Thr
NM_001029883.2:c.3533G>C NP_001025054.1:p.Arg1178Thr
XM_011532826.1:c.3533G>C XP_011531128.1:p.Arg1178Thr
XR_939901.1:n.185+1562C>G
XR_939902.1:n.173+1574C>G
NM_001029883.3:c.3533G>C MANE Select NP_001025054.1:p.Arg1178Thr