Canonical Allele Identifier: CA346472942
Gene: PCARE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070720A>T , CM000664.2:g.29070720A>T GRCh38
NC_000002.11:g.29293586A>T , CM000664.1:g.29293586A>T GRCh37
NC_000002.10:g.29147090A>T NCBI36
NG_021427.1:g.8542T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3542T>A MANE Select ENSP00000332809.4:p.Leu1181Gln
ENST00000331664.5:c.3542T>A ENSP00000332809.4:p.Leu1181Gln
NM_001029883.2:c.3542T>A NP_001025054.1:p.Leu1181Gln
XM_011532826.1:c.3542T>A XP_011531128.1:p.Leu1181Gln
XR_939901.1:n.185+1553A>T
XR_939902.1:n.173+1565A>T
NM_001029883.3:c.3542T>A MANE Select NP_001025054.1:p.Leu1181Gln