Canonical Allele Identifier: CA346472867
Gene: PCARE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070684G>T , CM000664.2:g.29070684G>T GRCh38
NC_000002.11:g.29293550G>T , CM000664.1:g.29293550G>T GRCh37
NC_000002.10:g.29147054G>T NCBI36
NG_021427.1:g.8578C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3578C>A MANE Select ENSP00000332809.4:p.Thr1193Lys
ENST00000331664.5:c.3578C>A ENSP00000332809.4:p.Thr1193Lys
NM_001029883.2:c.3578C>A NP_001025054.1:p.Thr1193Lys
XM_011532826.1:c.3578C>A XP_011531128.1:p.Thr1193Lys
XR_939901.1:n.185+1517G>T
XR_939902.1:n.173+1529G>T
NM_001029883.3:c.3578C>A MANE Select NP_001025054.1:p.Thr1193Lys