Canonical Allele Identifier: CA2658445799
Gene: PCARE HGNC NCBI

Linked Data

gnomAD v4: 2-29062353-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29062353C>A , CM000664.2:g.29062353C>A GRCh38
NC_000002.11:g.29285219C>A , CM000664.1:g.29285219C>A GRCh37
NC_000002.10:g.29138723C>A NCBI36
NG_021427.1:g.16909G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.*2516G>T MANE Select ENSP00000332809.4:n.*2516G>T
ENST00000331664.5:c.6383G>T ENSP00000332809.4:n.6383G>T
NM_001029883.2:c.6383G>T NP_001025054.1:n.6383G>T
XM_011532826.1:c.*382-698G>T XP_011531128.1:n.*382-698G>T
NM_001029883.3:c.*2516G>T MANE Select NP_001025054.1:n.*2516G>T