Canonical Allele Identifier: CA346480293
Gene: PCARE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29072871G>C , CM000664.2:g.29072871G>C GRCh38
NC_000002.11:g.29295737G>C , CM000664.1:g.29295737G>C GRCh37
NC_000002.10:g.29149241G>C NCBI36
NG_021427.1:g.6391C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1391C>G MANE Select ENSP00000332809.4:p.Ser464Cys
ENST00000331664.5:c.1391C>G ENSP00000332809.4:p.Ser464Cys
NM_001029883.2:c.1391C>G NP_001025054.1:p.Ser464Cys
XM_011532826.1:c.1391C>G XP_011531128.1:p.Ser464Cys
XR_939901.1:n.185+3704G>C
XR_939902.1:n.173+3716G>C
NM_001029883.3:c.1391C>G MANE Select NP_001025054.1:p.Ser464Cys