Canonical Allele Identifier: CA346472839
Gene: PCARE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070669T>G , CM000664.2:g.29070669T>G GRCh38
NC_000002.11:g.29293535T>G , CM000664.1:g.29293535T>G GRCh37
NC_000002.10:g.29147039T>G NCBI36
NG_021427.1:g.8593A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3593A>C MANE Select ENSP00000332809.4:p.Gln1198Pro
ENST00000331664.5:c.3593A>C ENSP00000332809.4:p.Gln1198Pro
NM_001029883.2:c.3593A>C NP_001025054.1:p.Gln1198Pro
XM_011532826.1:c.3593A>C XP_011531128.1:p.Gln1198Pro
XR_939901.1:n.185+1502T>G
XR_939902.1:n.173+1514T>G
NM_001029883.3:c.3593A>C MANE Select NP_001025054.1:p.Gln1198Pro