Canonical Allele Identifier: CA346475974
Gene: PCARE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071251T>A , CM000664.2:g.29071251T>A GRCh38
NC_000002.11:g.29294117T>A , CM000664.1:g.29294117T>A GRCh37
NC_000002.10:g.29147621T>A NCBI36
NG_021427.1:g.8011A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3011A>T MANE Select ENSP00000332809.4:p.Gln1004Leu
ENST00000331664.5:c.3011A>T ENSP00000332809.4:p.Gln1004Leu
NM_001029883.2:c.3011A>T NP_001025054.1:p.Gln1004Leu
XM_011532826.1:c.3011A>T XP_011531128.1:p.Gln1004Leu
XR_939901.1:n.185+2084T>A
XR_939902.1:n.173+2096T>A
NM_001029883.3:c.3011A>T MANE Select NP_001025054.1:p.Gln1004Leu