Canonical Allele Identifier: CA346472854
Gene: PCARE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070676C>G , CM000664.2:g.29070676C>G GRCh38
NC_000002.11:g.29293542C>G , CM000664.1:g.29293542C>G GRCh37
NC_000002.10:g.29147046C>G NCBI36
NG_021427.1:g.8586G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3586G>C MANE Select ENSP00000332809.4:p.Asp1196His
ENST00000331664.5:c.3586G>C ENSP00000332809.4:p.Asp1196His
NM_001029883.2:c.3586G>C NP_001025054.1:p.Asp1196His
XM_011532826.1:c.3586G>C XP_011531128.1:p.Asp1196His
XR_939901.1:n.185+1509C>G
XR_939902.1:n.173+1521C>G
NM_001029883.3:c.3586G>C MANE Select NP_001025054.1:p.Asp1196His