Canonical Allele Identifier: CA5716383
Gene: BAG3 HGNC NCBI

Linked Data

ClinVar Variation Id: 239790
ClinVar RCV Id: RCV000226073 RCV000443578 RCV000617486 RCV001104558 RCV000852427 RCV001107313 RCV003947775
dbSNP Id: rs199700646
ExAC: 10:121431875 A / C
gnomAD v2: 10-121431875-A-C
gnomAD v3: 10-119672363-A-C
gnomAD v4: 10-119672363-A-C
MyVariant Identifiers: chr10:g.121431875A>C (hg19) chr10:g.119672363A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.119672363A>C , CM000672.2:g.119672363A>C GRCh38
NC_000010.10:g.121431875A>C , CM000672.1:g.121431875A>C GRCh37
NC_000010.9:g.121421865A>C NCBI36
NG_016125.1:g.25994A>C , LRG_742:g.25994A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369085.8:c.616A>C MANE Select ENSP00000358081.4:p.Ile206Leu
ENST00000369085.7:c.616A>C ENSP00000358081.3:p.Ile206Leu
ENST00000450186.1:c.442A>C ENSP00000410036.1:p.Ile148Leu
NM_004281.3:c.616A>C , LRG_742t1:c.616A>C NP_004272.2:p.Ile206Leu
XM_005270287.1:c.616A>C XP_005270344.1:p.Ile206Leu
XM_005270287.2:c.616A>C XP_005270344.1:p.Ile206Leu
NM_004281.4:c.616A>C MANE Select NP_004272.2:p.Ile206Leu
Search 100 bp 5'
Search 100 bp 3'