Canonical Allele Identifier: CA346480834
Gene: PCARE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29073132G>A , CM000664.2:g.29073132G>A GRCh38
NC_000002.11:g.29295998G>A , CM000664.1:g.29295998G>A GRCh37
NC_000002.10:g.29149502G>A NCBI36
NG_021427.1:g.6130C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1130C>T MANE Select ENSP00000332809.4:p.Pro377Leu
ENST00000331664.5:c.1130C>T ENSP00000332809.4:p.Pro377Leu
NM_001029883.2:c.1130C>T NP_001025054.1:p.Pro377Leu
XM_011532826.1:c.1130C>T XP_011531128.1:p.Pro377Leu
XR_939901.1:n.185+3965G>A
XR_939902.1:n.173+3977G>A
NM_001029883.3:c.1130C>T MANE Select NP_001025054.1:p.Pro377Leu