Canonical Allele Identifier: CA346474560
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs1409613535
gnomAD v2: 2-29293595-C-T
gnomAD v4: 2-29070729-C-T

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3533G>A MANE Select ENSP00000332809.4:p.Arg1178Lys
ENST00000331664.5:c.3533G>A ENSP00000332809.4:p.Arg1178Lys
NM_001029883.2:c.3533G>A NP_001025054.1:p.Arg1178Lys
XM_011532826.1:c.3533G>A XP_011531128.1:p.Arg1178Lys
XR_939901.1:n.185+1562C>T
XR_939902.1:n.173+1574C>T
NM_001029883.3:c.3533G>A MANE Select NP_001025054.1:p.Arg1178Lys