Canonical Allele Identifier: CA346475524
Gene: PCARE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071021T>G , CM000664.2:g.29071021T>G GRCh38
NC_000002.11:g.29293887T>G , CM000664.1:g.29293887T>G GRCh37
NC_000002.10:g.29147391T>G NCBI36
NG_021427.1:g.8241A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3241A>C MANE Select ENSP00000332809.4:p.Ser1081Arg
ENST00000331664.5:c.3241A>C ENSP00000332809.4:p.Ser1081Arg
NM_001029883.2:c.3241A>C NP_001025054.1:p.Ser1081Arg
XM_011532826.1:c.3241A>C XP_011531128.1:p.Ser1081Arg
XR_939901.1:n.185+1854T>G
XR_939902.1:n.173+1866T>G
NM_001029883.3:c.3241A>C MANE Select NP_001025054.1:p.Ser1081Arg