Canonical Allele Identifier: CA346475469
Gene: PCARE HGNC NCBI

Linked Data

gnomAD v4: 2-29070994-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070994A>T , CM000664.2:g.29070994A>T GRCh38
NC_000002.11:g.29293860A>T , CM000664.1:g.29293860A>T GRCh37
NC_000002.10:g.29147364A>T NCBI36
NG_021427.1:g.8268T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3268T>A MANE Select ENSP00000332809.4:p.Ser1090Thr
ENST00000331664.5:c.3268T>A ENSP00000332809.4:p.Ser1090Thr
NM_001029883.2:c.3268T>A NP_001025054.1:p.Ser1090Thr
XM_011532826.1:c.3268T>A XP_011531128.1:p.Ser1090Thr
XR_939901.1:n.185+1827A>T
XR_939902.1:n.173+1839A>T
NM_001029883.3:c.3268T>A MANE Select NP_001025054.1:p.Ser1090Thr