Canonical Allele Identifier: CA346474958
Gene: PCARE HGNC NCBI

Linked Data

gnomAD v4: 2-29070841-G-T
MyVariant Identifiers: chr2:g.29293707G>T (hg19) chr2:g.29070841G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070841G>T , CM000664.2:g.29070841G>T GRCh38
NC_000002.11:g.29293707G>T , CM000664.1:g.29293707G>T GRCh37
NC_000002.10:g.29147211G>T NCBI36
NG_021427.1:g.8421C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3421C>A MANE Select ENSP00000332809.4:p.His1141Asn
ENST00000331664.5:c.3421C>A ENSP00000332809.4:p.His1141Asn
NM_001029883.2:c.3421C>A NP_001025054.1:p.His1141Asn
XM_011532826.1:c.3421C>A XP_011531128.1:p.His1141Asn
XR_939901.1:n.185+1674G>T
XR_939902.1:n.173+1686G>T
NM_001029883.3:c.3421C>A MANE Select NP_001025054.1:p.His1141Asn
Search 100 bp 5'
Search 100 bp 3'