Canonical Allele Identifier: CA346480512
Gene: PCARE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29072978G>T , CM000664.2:g.29072978G>T GRCh38
NC_000002.11:g.29295844G>T , CM000664.1:g.29295844G>T GRCh37
NC_000002.10:g.29149348G>T NCBI36
NG_021427.1:g.6284C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1284C>A MANE Select ENSP00000332809.4:p.Asp428Glu
ENST00000331664.5:c.1284C>A ENSP00000332809.4:p.Asp428Glu
NM_001029883.2:c.1284C>A NP_001025054.1:p.Asp428Glu
XM_011532826.1:c.1284C>A XP_011531128.1:p.Asp428Glu
XR_939901.1:n.185+3811G>T
XR_939902.1:n.173+3823G>T
NM_001029883.3:c.1284C>A MANE Select NP_001025054.1:p.Asp428Glu