Canonical Allele Identifier: CA346480301
Gene: PCARE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29072877C>A , CM000664.2:g.29072877C>A GRCh38
NC_000002.11:g.29295743C>A , CM000664.1:g.29295743C>A GRCh37
NC_000002.10:g.29149247C>A NCBI36
NG_021427.1:g.6385G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1385G>T MANE Select ENSP00000332809.4:p.Gly462Val
ENST00000331664.5:c.1385G>T ENSP00000332809.4:p.Gly462Val
NM_001029883.2:c.1385G>T NP_001025054.1:p.Gly462Val
XM_011532826.1:c.1385G>T XP_011531128.1:p.Gly462Val
XR_939901.1:n.185+3710C>A
XR_939902.1:n.173+3722C>A
NM_001029883.3:c.1385G>T MANE Select NP_001025054.1:p.Gly462Val