Canonical Allele Identifier: CA346475840
Gene: PCARE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071181C>A , CM000664.2:g.29071181C>A GRCh38
NC_000002.11:g.29294047C>A , CM000664.1:g.29294047C>A GRCh37
NC_000002.10:g.29147551C>A NCBI36
NG_021427.1:g.8081G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000331664.6:c.3081G>T MANE Select ENSP00000332809.4:p.Gln1027His
ENST00000331664.5:c.3081G>T ENSP00000332809.4:p.Gln1027His
NM_001029883.2:c.3081G>T NP_001025054.1:p.Gln1027His
XM_011532826.1:c.3081G>T XP_011531128.1:p.Gln1027His
XR_939901.1:n.185+2014C>A
XR_939902.1:n.173+2026C>A
NM_001029883.3:c.3081G>T MANE Select NP_001025054.1:p.Gln1027His