Canonical Allele Identifier: CA346481923
Gene: PCARE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29073652T>C , CM000664.2:g.29073652T>C GRCh38
NC_000002.11:g.29296518T>C , CM000664.1:g.29296518T>C GRCh37
NC_000002.10:g.29150022T>C NCBI36
NG_021427.1:g.5610A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.610A>G MANE Select ENSP00000332809.4:p.Ile204Val
ENST00000331664.5:c.610A>G ENSP00000332809.4:p.Ile204Val
NM_001029883.2:c.610A>G NP_001025054.1:p.Ile204Val
XM_011532826.1:c.610A>G XP_011531128.1:p.Ile204Val
XR_939901.1:n.185+4485T>C
XR_939902.1:n.173+4497T>C
NM_001029883.3:c.610A>G MANE Select NP_001025054.1:p.Ile204Val