Canonical Allele Identifier: CA5716231

Gene: BAG3

Linked Data

• ClinVar Variation Id: 239789
• ClinVar RCV Id: RCV000228034 ; RCV002399827 ; RCV003128602 ; RCV003409349
• dbSNP Id: rs777100532
• ExAC: 10:121411354 C / G
• gnomAD v2: 10-121411354-C-G
• gnomAD v3: 10-119651842-C-G
• gnomAD v4: 10-119651842-C-G
• MyVariant Identifiers: chr10:g.121411354C>G (hg19) ; chr10:g.119651842C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.119651842C>G , CM000672.2:g.119651842C>G	GRCh38
NC_000010.10:g.121411354C>G , CM000672.1:g.121411354C>G	GRCh37
NC_000010.9:g.121401344C>G	NCBI36
NG_016125.1:g.5473C>G , LRG_742:g.5473C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369085.8:c.167C>G MANE Select	ENSP00000358081.4:p.Ser56Cys
ENST00000369085.7:c.167C>G	ENSP00000358081.3:p.Ser56Cys
NM_004281.3:c.167C>G , LRG_742t1:c.167C>G	NP_004272.2:p.Ser56Cys
XM_005270287.1:c.167C>G	XP_005270344.1:p.Ser56Cys
XM_005270287.2:c.167C>G	XP_005270344.1:p.Ser56Cys
NM_004281.4:c.167C>G MANE Select	NP_004272.2:p.Ser56Cys