Canonical Allele Identifier: CA346476039
Gene: PCARE HGNC NCBI

Linked Data

COSMIC: COSM345315

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071283C>A , CM000664.2:g.29071283C>A GRCh38
NC_000002.11:g.29294149C>A , CM000664.1:g.29294149C>A GRCh37
NC_000002.10:g.29147653C>A NCBI36
NG_021427.1:g.7979G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000331664.6:c.2979G>T MANE Select ENSP00000332809.4:p.Lys993Asn
ENST00000331664.5:c.2979G>T ENSP00000332809.4:p.Lys993Asn
NM_001029883.2:c.2979G>T NP_001025054.1:p.Lys993Asn
XM_011532826.1:c.2979G>T XP_011531128.1:p.Lys993Asn
XR_939901.1:n.185+2116C>A
XR_939902.1:n.173+2128C>A
NM_001029883.3:c.2979G>T MANE Select NP_001025054.1:p.Lys993Asn