Canonical Allele Identifier: CA346474544
Gene: PCARE HGNC NCBI

Linked Data

gnomAD v4: 2-29070727-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070727C>T , CM000664.2:g.29070727C>T GRCh38
NC_000002.11:g.29293593C>T , CM000664.1:g.29293593C>T GRCh37
NC_000002.10:g.29147097C>T NCBI36
NG_021427.1:g.8535G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3535G>A MANE Select ENSP00000332809.4:p.Ala1179Thr
ENST00000331664.5:c.3535G>A ENSP00000332809.4:p.Ala1179Thr
NM_001029883.2:c.3535G>A NP_001025054.1:p.Ala1179Thr
XM_011532826.1:c.3535G>A XP_011531128.1:p.Ala1179Thr
XR_939901.1:n.185+1560C>T
XR_939902.1:n.173+1572C>T
NM_001029883.3:c.3535G>A MANE Select NP_001025054.1:p.Ala1179Thr