Canonical Allele Identifier: CA346480777
Gene: PCARE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29073105G>A , CM000664.2:g.29073105G>A GRCh38
NC_000002.11:g.29295971G>A , CM000664.1:g.29295971G>A GRCh37
NC_000002.10:g.29149475G>A NCBI36
NG_021427.1:g.6157C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1157C>T MANE Select ENSP00000332809.4:p.Pro386Leu
ENST00000331664.5:c.1157C>T ENSP00000332809.4:p.Pro386Leu
NM_001029883.2:c.1157C>T NP_001025054.1:p.Pro386Leu
XM_011532826.1:c.1157C>T XP_011531128.1:p.Pro386Leu
XR_939901.1:n.185+3938G>A
XR_939902.1:n.173+3950G>A
NM_001029883.3:c.1157C>T MANE Select NP_001025054.1:p.Pro386Leu