Canonical Allele Identifier: CA279265
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 191360
ClinVar RCV Id: RCV000201436
dbSNP Id: rs863223344

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29073550T>A , CM000664.2:g.29073550T>A GRCh38
NC_000002.11:g.29296416T>A , CM000664.1:g.29296416T>A GRCh37
NC_000002.10:g.29149920T>A NCBI36
NG_021427.1:g.5712A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000331664.6:c.712A>T MANE Select ENSP00000332809.4:p.Lys238Ter
ENST00000331664.5:c.712A>T ENSP00000332809.4:p.Lys238Ter
NM_001029883.2:c.712A>T NP_001025054.1:p.Lys238Ter
XM_011532826.1:c.712A>T XP_011531128.1:p.Lys238Ter
XR_939901.1:n.185+4383T>A
XR_939902.1:n.173+4395T>A
NM_001029883.3:c.712A>T MANE Select NP_001025054.1:p.Lys238Ter