Canonical Allele Identifier: CA378297388
Gene: BAG3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2944420
ClinVar RCV Id: RCV003806170

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.119677025T>G , CM000672.2:g.119677025T>G GRCh38
NC_000010.10:g.121436537T>G , CM000672.1:g.121436537T>G GRCh37
NC_000010.9:g.121426527T>G NCBI36
NG_016125.1:g.30656T>G , LRG_742:g.30656T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369085.8:c.1471T>G MANE Select ENSP00000358081.4:p.Leu491Val
ENST00000369085.7:c.1471T>G ENSP00000358081.3:p.Leu491Val
NM_004281.3:c.1471T>G , LRG_742t1:c.1471T>G NP_004272.2:p.Leu491Val
XM_005270287.1:c.1468T>G XP_005270344.1:p.Leu490Val
XM_005270287.2:c.1468T>G XP_005270344.1:p.Leu490Val
NM_004281.4:c.1471T>G MANE Select NP_004272.2:p.Leu491Val