Canonical Allele Identifier: CA346480300
Gene: PCARE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29072875C>G , CM000664.2:g.29072875C>G GRCh38
NC_000002.11:g.29295741C>G , CM000664.1:g.29295741C>G GRCh37
NC_000002.10:g.29149245C>G NCBI36
NG_021427.1:g.6387G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1387G>C MANE Select ENSP00000332809.4:p.Val463Leu
ENST00000331664.5:c.1387G>C ENSP00000332809.4:p.Val463Leu
NM_001029883.2:c.1387G>C NP_001025054.1:p.Val463Leu
XM_011532826.1:c.1387G>C XP_011531128.1:p.Val463Leu
XR_939901.1:n.185+3708C>G
XR_939902.1:n.173+3720C>G
NM_001029883.3:c.1387G>C MANE Select NP_001025054.1:p.Val463Leu