Canonical Allele Identifier: CA5716257

Gene: BAG3

Linked Data

• ClinVar Variation Id: 509724
• ClinVar RCV Id: RCV000613832 ; RCV002063285
• dbSNP Id: rs765292614
• ExAC: 10:121429353 T / C
• gnomAD v2: 10-121429353-T-C
• gnomAD v4: 10-119669841-T-C
• MyVariant Identifiers: chr10:g.121429353T>C (hg19) ; chr10:g.119669841T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.119669841T>C , CM000672.2:g.119669841T>C	GRCh38
NC_000010.10:g.121429353T>C , CM000672.1:g.121429353T>C	GRCh37
NC_000010.9:g.121419343T>C	NCBI36
NG_016125.1:g.23472T>C , LRG_742:g.23472T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369085.8:c.181-10T>C MANE Select	ENSP00000358081.4:n.181-10T>C
ENST00000369085.7:c.181-10T>C	ENSP00000358081.3:n.181-10T>C
ENST00000450186.1:c.7-10T>C	ENSP00000410036.1:n.7-10T>C
NM_004281.3:c.181-10T>C , LRG_742t1:c.181-10T>C	NP_004272.2:n.181-10T>C
XM_005270287.1:c.181-10T>C	XP_005270344.1:n.181-10T>C
XM_005270287.2:c.181-10T>C	XP_005270344.1:n.181-10T>C
NM_004281.4:c.181-10T>C MANE Select	NP_004272.2:n.181-10T>C