Canonical Allele Identifier: CA200351
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 193140
dbSNP Id: rs140790266
gnomAD v2: 2-29294014-C-G
gnomAD v3: 2-29071148-C-G
gnomAD v4: 2-29071148-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071148C>G , CM000664.2:g.29071148C>G GRCh38
NC_000002.11:g.29294014C>G , CM000664.1:g.29294014C>G GRCh37
NC_000002.10:g.29147518C>G NCBI36
NG_021427.1:g.8114G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3114G>C MANE Select ENSP00000332809.4:p.Val1038=
ENST00000331664.5:c.3114G>C ENSP00000332809.4:p.Val1038=
NM_001029883.2:c.3114G>C NP_001025054.1:p.Val1038=
XM_011532826.1:c.3114G>C XP_011531128.1:p.Val1038=
XR_939901.1:n.185+1981C>G
XR_939902.1:n.173+1993C>G
NM_001029883.3:c.3114G>C MANE Select NP_001025054.1:p.Val1038=