Canonical Allele Identifier: CA346475861
Gene: PCARE HGNC NCBI

Linked Data

gnomAD v4: 2-29071191-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071191G>T , CM000664.2:g.29071191G>T GRCh38
NC_000002.11:g.29294057G>T , CM000664.1:g.29294057G>T GRCh37
NC_000002.10:g.29147561G>T NCBI36
NG_021427.1:g.8071C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3071C>A MANE Select ENSP00000332809.4:p.Ser1024Tyr
ENST00000331664.5:c.3071C>A ENSP00000332809.4:p.Ser1024Tyr
NM_001029883.2:c.3071C>A NP_001025054.1:p.Ser1024Tyr
XM_011532826.1:c.3071C>A XP_011531128.1:p.Ser1024Tyr
XR_939901.1:n.185+2024G>T
XR_939902.1:n.173+2036G>T
NM_001029883.3:c.3071C>A MANE Select NP_001025054.1:p.Ser1024Tyr