Canonical Allele Identifier: CA346475471
Gene: PCARE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070996G>T , CM000664.2:g.29070996G>T GRCh38
NC_000002.11:g.29293862G>T , CM000664.1:g.29293862G>T GRCh37
NC_000002.10:g.29147366G>T NCBI36
NG_021427.1:g.8266C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3266C>A MANE Select ENSP00000332809.4:p.Pro1089Gln
ENST00000331664.5:c.3266C>A ENSP00000332809.4:p.Pro1089Gln
NM_001029883.2:c.3266C>A NP_001025054.1:p.Pro1089Gln
XM_011532826.1:c.3266C>A XP_011531128.1:p.Pro1089Gln
XR_939901.1:n.185+1829G>T
XR_939902.1:n.173+1841G>T
NM_001029883.3:c.3266C>A MANE Select NP_001025054.1:p.Pro1089Gln