Canonical Allele Identifier: CA346475758
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 1926261
ClinVar RCV Id: RCV002626327
dbSNP Id: rs1479927058
gnomAD v3: 2-29071138-G-C
gnomAD v4: 2-29071138-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071138G>C , CM000664.2:g.29071138G>C GRCh38
NC_000002.11:g.29294004G>C , CM000664.1:g.29294004G>C GRCh37
NC_000002.10:g.29147508G>C NCBI36
NG_021427.1:g.8124C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3124C>G MANE Select ENSP00000332809.4:p.Pro1042Ala
ENST00000331664.5:c.3124C>G ENSP00000332809.4:p.Pro1042Ala
NM_001029883.2:c.3124C>G NP_001025054.1:p.Pro1042Ala
XM_011532826.1:c.3124C>G XP_011531128.1:p.Pro1042Ala
XR_939901.1:n.185+1971G>C
XR_939902.1:n.173+1983G>C
NM_001029883.3:c.3124C>G MANE Select NP_001025054.1:p.Pro1042Ala