Canonical Allele Identifier: CA346480793
Gene: PCARE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29073114A>C , CM000664.2:g.29073114A>C GRCh38
NC_000002.11:g.29295980A>C , CM000664.1:g.29295980A>C GRCh37
NC_000002.10:g.29149484A>C NCBI36
NG_021427.1:g.6148T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1148T>G MANE Select ENSP00000332809.4:p.Val383Gly
ENST00000331664.5:c.1148T>G ENSP00000332809.4:p.Val383Gly
NM_001029883.2:c.1148T>G NP_001025054.1:p.Val383Gly
XM_011532826.1:c.1148T>G XP_011531128.1:p.Val383Gly
XR_939901.1:n.185+3947A>C
XR_939902.1:n.173+3959A>C
NM_001029883.3:c.1148T>G MANE Select NP_001025054.1:p.Val383Gly