Canonical Allele Identifier: CA346476041
Gene: PCARE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071284T>A , CM000664.2:g.29071284T>A GRCh38
NC_000002.11:g.29294150T>A , CM000664.1:g.29294150T>A GRCh37
NC_000002.10:g.29147654T>A NCBI36
NG_021427.1:g.7978A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000331664.6:c.2978A>T MANE Select ENSP00000332809.4:p.Lys993Met
ENST00000331664.5:c.2978A>T ENSP00000332809.4:p.Lys993Met
NM_001029883.2:c.2978A>T NP_001025054.1:p.Lys993Met
XM_011532826.1:c.2978A>T XP_011531128.1:p.Lys993Met
XR_939901.1:n.185+2117T>A
XR_939902.1:n.173+2129T>A
NM_001029883.3:c.2978A>T MANE Select NP_001025054.1:p.Lys993Met