Canonical Allele Identifier: CA1591880
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs750953490
gnomAD v2: 2-29293512-G-A
gnomAD v4: 2-29070646-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070646G>A , CM000664.2:g.29070646G>A GRCh38
NC_000002.11:g.29293512G>A , CM000664.1:g.29293512G>A GRCh37
NC_000002.10:g.29147016G>A NCBI36
NG_021427.1:g.8616C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3616C>T MANE Select ENSP00000332809.4:p.Pro1206Ser
ENST00000331664.5:c.3616C>T ENSP00000332809.4:p.Pro1206Ser
NM_001029883.2:c.3616C>T NP_001025054.1:p.Pro1206Ser
XM_011532826.1:c.3616C>T XP_011531128.1:p.Pro1206Ser
XR_939901.1:n.185+1479G>A
XR_939902.1:n.173+1491G>A
NM_001029883.3:c.3616C>T MANE Select NP_001025054.1:p.Pro1206Ser