Canonical Allele Identifier: CA346480287
Gene: PCARE HGNC NCBI

Linked Data

gnomAD v4: 2-29072868-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29072868A>G , CM000664.2:g.29072868A>G GRCh38
NC_000002.11:g.29295734A>G , CM000664.1:g.29295734A>G GRCh37
NC_000002.10:g.29149238A>G NCBI36
NG_021427.1:g.6394T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1394T>C MANE Select ENSP00000332809.4:p.Val465Ala
ENST00000331664.5:c.1394T>C ENSP00000332809.4:p.Val465Ala
NM_001029883.2:c.1394T>C NP_001025054.1:p.Val465Ala
XM_011532826.1:c.1394T>C XP_011531128.1:p.Val465Ala
XR_939901.1:n.185+3701A>G
XR_939902.1:n.173+3713A>G
NM_001029883.3:c.1394T>C MANE Select NP_001025054.1:p.Val465Ala