Canonical Allele Identifier: CA346475456
Gene: PCARE HGNC NCBI

Linked Data

gnomAD v3: 2-29070985-T-G
gnomAD v4: 2-29070985-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070985T>G , CM000664.2:g.29070985T>G GRCh38
NC_000002.11:g.29293851T>G , CM000664.1:g.29293851T>G GRCh37
NC_000002.10:g.29147355T>G NCBI36
NG_021427.1:g.8277A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3277A>C MANE Select ENSP00000332809.4:p.Met1093Leu
ENST00000331664.5:c.3277A>C ENSP00000332809.4:p.Met1093Leu
NM_001029883.2:c.3277A>C NP_001025054.1:p.Met1093Leu
XM_011532826.1:c.3277A>C XP_011531128.1:p.Met1093Leu
XR_939901.1:n.185+1818T>G
XR_939902.1:n.173+1830T>G
NM_001029883.3:c.3277A>C MANE Select NP_001025054.1:p.Met1093Leu