Canonical Allele Identifier: CA346475739
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs1452236848
gnomAD v3: 2-29071128-T-C
gnomAD v4: 2-29071128-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071128T>C , CM000664.2:g.29071128T>C GRCh38
NC_000002.11:g.29293994T>C , CM000664.1:g.29293994T>C GRCh37
NC_000002.10:g.29147498T>C NCBI36
NG_021427.1:g.8134A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3134A>G MANE Select ENSP00000332809.4:p.Lys1045Arg
ENST00000331664.5:c.3134A>G ENSP00000332809.4:p.Lys1045Arg
NM_001029883.2:c.3134A>G NP_001025054.1:p.Lys1045Arg
XM_011532826.1:c.3134A>G XP_011531128.1:p.Lys1045Arg
XR_939901.1:n.185+1961T>C
XR_939902.1:n.173+1973T>C
NM_001029883.3:c.3134A>G MANE Select NP_001025054.1:p.Lys1045Arg