Canonical Allele Identifier: CA346475443
Gene: PCARE HGNC NCBI

Linked Data

gnomAD v4: 2-29070979-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070979G>C , CM000664.2:g.29070979G>C GRCh38
NC_000002.11:g.29293845G>C , CM000664.1:g.29293845G>C GRCh37
NC_000002.10:g.29147349G>C NCBI36
NG_021427.1:g.8283C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3283C>G MANE Select ENSP00000332809.4:p.Pro1095Ala
ENST00000331664.5:c.3283C>G ENSP00000332809.4:p.Pro1095Ala
NM_001029883.2:c.3283C>G NP_001025054.1:p.Pro1095Ala
XM_011532826.1:c.3283C>G XP_011531128.1:p.Pro1095Ala
XR_939901.1:n.185+1812G>C
XR_939902.1:n.173+1824G>C
NM_001029883.3:c.3283C>G MANE Select NP_001025054.1:p.Pro1095Ala