Canonical Allele Identifier: CA346477981
Gene: PCARE HGNC NCBI

Linked Data

gnomAD v4: 2-29072041-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29072041T>G , CM000664.2:g.29072041T>G GRCh38
NC_000002.11:g.29294907T>G , CM000664.1:g.29294907T>G GRCh37
NC_000002.10:g.29148411T>G NCBI36
NG_021427.1:g.7221A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.2221A>C MANE Select ENSP00000332809.4:p.Thr741Pro
ENST00000331664.5:c.2221A>C ENSP00000332809.4:p.Thr741Pro
NM_001029883.2:c.2221A>C NP_001025054.1:p.Thr741Pro
XM_011532826.1:c.2221A>C XP_011531128.1:p.Thr741Pro
XR_939901.1:n.185+2874T>G
XR_939902.1:n.173+2886T>G
NM_001029883.3:c.2221A>C MANE Select NP_001025054.1:p.Thr741Pro