Canonical Allele Identifier: CA5716293
Gene: BAG3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1485238
ClinVar RCV Id: RCV002008513
dbSNP Id: rs730880053
ExAC: 10:121429504 G / C
gnomAD v2: 10-121429504-G-C
MyVariant Identifiers: chr10:g.121429504G>C (hg19) chr10:g.119669992G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.119669992G>C , CM000672.2:g.119669992G>C GRCh38
NC_000010.10:g.121429504G>C , CM000672.1:g.121429504G>C GRCh37
NC_000010.9:g.121419494G>C NCBI36
NG_016125.1:g.23623G>C , LRG_742:g.23623G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369085.8:c.322G>C MANE Select ENSP00000358081.4:p.Val108Leu
ENST00000369085.7:c.322G>C ENSP00000358081.3:p.Val108Leu
ENST00000450186.1:c.148G>C ENSP00000410036.1:p.Val50Leu
NM_004281.3:c.322G>C , LRG_742t1:c.322G>C NP_004272.2:p.Val108Leu
XM_005270287.1:c.322G>C XP_005270344.1:p.Val108Leu
XM_005270287.2:c.322G>C XP_005270344.1:p.Val108Leu
NM_004281.4:c.322G>C MANE Select NP_004272.2:p.Val108Leu
Search 100 bp 5'
Search 100 bp 3'