Canonical Allele Identifier: CA2658445719
Gene: PCARE HGNC NCBI

Linked Data

gnomAD v4: 2-29062315-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29062315T>C , CM000664.2:g.29062315T>C GRCh38
NC_000002.11:g.29285181T>C , CM000664.1:g.29285181T>C GRCh37
NC_000002.10:g.29138685T>C NCBI36
NG_021427.1:g.16947A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.*2554A>G MANE Select ENSP00000332809.4:n.*2554A>G
ENST00000331664.5:c.6421A>G ENSP00000332809.4:n.6421A>G
NM_001029883.2:c.6421A>G NP_001025054.1:n.6421A>G
XM_011532826.1:c.*382-660A>G XP_011531128.1:n.*382-660A>G
NM_001029883.3:c.*2554A>G MANE Select NP_001025054.1:n.*2554A>G