Canonical Allele Identifier: CA346475760
Gene: PCARE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071140G>A , CM000664.2:g.29071140G>A GRCh38
NC_000002.11:g.29294006G>A , CM000664.1:g.29294006G>A GRCh37
NC_000002.10:g.29147510G>A NCBI36
NG_021427.1:g.8122C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3122C>T MANE Select ENSP00000332809.4:p.Pro1041Leu
ENST00000331664.5:c.3122C>T ENSP00000332809.4:p.Pro1041Leu
NM_001029883.2:c.3122C>T NP_001025054.1:p.Pro1041Leu
XM_011532826.1:c.3122C>T XP_011531128.1:p.Pro1041Leu
XR_939901.1:n.185+1973G>A
XR_939902.1:n.173+1985G>A
NM_001029883.3:c.3122C>T MANE Select NP_001025054.1:p.Pro1041Leu