Canonical Allele Identifier: CA5716322

Gene: BAG3

Linked Data

• ClinVar Variation Id: 389437
• ClinVar RCV Id: RCV001704498
• dbSNP Id: rs376198104
• ExAC: 10:121429642 G / A
• gnomAD v2: 10-121429642-G-A
• gnomAD v3: 10-119670130-G-A
• gnomAD v4: 10-119670130-G-A
• MyVariant Identifiers: chr10:g.121429642G>A (hg19) ; chr10:g.119670130G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.119670130G>A , CM000672.2:g.119670130G>A	GRCh38
NC_000010.10:g.121429642G>A , CM000672.1:g.121429642G>A	GRCh37
NC_000010.9:g.121419632G>A	NCBI36
NG_016125.1:g.23761G>A , LRG_742:g.23761G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000369085.8:c.460G>A MANE Select	ENSP00000358081.4:p.Val154Met
ENST00000369085.7:c.460G>A	ENSP00000358081.3:p.Val154Met
ENST00000450186.1:c.286G>A	ENSP00000410036.1:p.Val96Met
NM_004281.3:c.460G>A , LRG_742t1:c.460G>A	NP_004272.2:p.Val154Met
XM_005270287.1:c.460G>A	XP_005270344.1:p.Val154Met
XM_005270287.2:c.460G>A	XP_005270344.1:p.Val154Met
NM_004281.4:c.460G>A MANE Select	NP_004272.2:p.Val154Met