Canonical Allele Identifier: CA1592458
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 335664
dbSNP Id: rs200696965
gnomAD v2: 2-29295831-G-A
gnomAD v3: 2-29072965-G-A
gnomAD v4: 2-29072965-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29072965G>A , CM000664.2:g.29072965G>A GRCh38
NC_000002.11:g.29295831G>A , CM000664.1:g.29295831G>A GRCh37
NC_000002.10:g.29149335G>A NCBI36
NG_021427.1:g.6297C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1297C>T MANE Select ENSP00000332809.4:p.Pro433Ser
ENST00000331664.5:c.1297C>T ENSP00000332809.4:p.Pro433Ser
NM_001029883.2:c.1297C>T NP_001025054.1:p.Pro433Ser
XM_011532826.1:c.1297C>T XP_011531128.1:p.Pro433Ser
XR_939901.1:n.185+3798G>A
XR_939902.1:n.173+3810G>A
NM_001029883.3:c.1297C>T MANE Select NP_001025054.1:p.Pro433Ser