Canonical Allele Identifier: CA346474776
Gene: PCARE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070767G>T , CM000664.2:g.29070767G>T GRCh38
NC_000002.11:g.29293633G>T , CM000664.1:g.29293633G>T GRCh37
NC_000002.10:g.29147137G>T NCBI36
NG_021427.1:g.8495C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3495C>A MANE Select ENSP00000332809.4:p.Asn1165Lys
ENST00000331664.5:c.3495C>A ENSP00000332809.4:p.Asn1165Lys
NM_001029883.2:c.3495C>A NP_001025054.1:p.Asn1165Lys
XM_011532826.1:c.3495C>A XP_011531128.1:p.Asn1165Lys
XR_939901.1:n.185+1600G>T
XR_939902.1:n.173+1612G>T
NM_001029883.3:c.3495C>A MANE Select NP_001025054.1:p.Asn1165Lys