Canonical Allele Identifier: CA1592026
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs770153537
gnomAD v2: 2-29294037-T-C
gnomAD v4: 2-29071171-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071171T>C , CM000664.2:g.29071171T>C GRCh38
NC_000002.11:g.29294037T>C , CM000664.1:g.29294037T>C GRCh37
NC_000002.10:g.29147541T>C NCBI36
NG_021427.1:g.8091A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000331664.6:c.3091A>G MANE Select ENSP00000332809.4:p.Ser1031Gly
ENST00000331664.5:c.3091A>G ENSP00000332809.4:p.Ser1031Gly
NM_001029883.2:c.3091A>G NP_001025054.1:p.Ser1031Gly
XM_011532826.1:c.3091A>G XP_011531128.1:p.Ser1031Gly
XR_939901.1:n.185+2004T>C
XR_939902.1:n.173+2016T>C
NM_001029883.3:c.3091A>G MANE Select NP_001025054.1:p.Ser1031Gly