Canonical Allele Identifier: CA5716333

Gene: BAG3

Linked Data

• ClinVar Variation Id: 993508
• ClinVar RCV Id: RCV001812329 ; RCV001871670 ; RCV003294184
• dbSNP Id: rs143756613
• ExAC: 10:121429676 C / T
• gnomAD v2: 10-121429676-C-T
• gnomAD v3: 10-119670164-C-T
• gnomAD v4: 10-119670164-C-T
• MyVariant Identifiers: chr10:g.121429676C>T (hg19) ; chr10:g.119670164C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.119670164C>T , CM000672.2:g.119670164C>T	GRCh38
NC_000010.10:g.121429676C>T , CM000672.1:g.121429676C>T	GRCh37
NC_000010.9:g.121419666C>T	NCBI36
NG_016125.1:g.23795C>T , LRG_742:g.23795C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369085.8:c.494C>T MANE Select	ENSP00000358081.4:p.Ser165Phe
ENST00000369085.7:c.494C>T	ENSP00000358081.3:p.Ser165Phe
ENST00000450186.1:c.320C>T	ENSP00000410036.1:p.Ser107Phe
NM_004281.3:c.494C>T , LRG_742t1:c.494C>T	NP_004272.2:p.Ser165Phe
XM_005270287.1:c.494C>T	XP_005270344.1:p.Ser165Phe
XM_005270287.2:c.494C>T	XP_005270344.1:p.Ser165Phe
NM_004281.4:c.494C>T MANE Select	NP_004272.2:p.Ser165Phe