Canonical Allele Identifier: CA1592687
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 335672
dbSNP Id: rs62132765
gnomAD v2: 2-29296870-C-T
gnomAD v3: 2-29074004-C-T
gnomAD v4: 2-29074004-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29074004C>T , CM000664.2:g.29074004C>T GRCh38
NC_000002.11:g.29296870C>T , CM000664.1:g.29296870C>T GRCh37
NC_000002.10:g.29150374C>T NCBI36
NG_021427.1:g.5258G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000331664.6:c.258G>A MANE Select ENSP00000332809.4:p.Arg86=
ENST00000331664.5:c.258G>A ENSP00000332809.4:p.Arg86=
NM_001029883.2:c.258G>A NP_001025054.1:p.Arg86=
XM_011532826.1:c.258G>A XP_011531128.1:p.Arg86=
XR_939901.1:n.185+4837C>T
XR_939902.1:n.173+4849C>T
NM_001029883.3:c.258G>A MANE Select NP_001025054.1:p.Arg86=