Canonical Allele Identifier: CA5716458
Gene: BAG3 HGNC NCBI

Linked Data

ClinVar Variation Id: 518903
ClinVar RCV Id: RCV000618477 RCV001361374 RCV003144396
dbSNP Id: rs765627299
ExAC: 10:121436049 T / C
gnomAD v2: 10-121436049-T-C
gnomAD v4: 10-119676537-T-C
MyVariant Identifiers: chr10:g.121436049T>C (hg19) chr10:g.119676537T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.119676537T>C , CM000672.2:g.119676537T>C GRCh38
NC_000010.10:g.121436049T>C , CM000672.1:g.121436049T>C GRCh37
NC_000010.9:g.121426039T>C NCBI36
NG_016125.1:g.30168T>C , LRG_742:g.30168T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369085.8:c.983T>C MANE Select ENSP00000358081.4:p.Val328Ala
ENST00000369085.7:c.983T>C ENSP00000358081.3:p.Val328Ala
ENST00000450186.1:c.806T>C ENSP00000410036.1:p.Val269Ala
NM_004281.3:c.983T>C , LRG_742t1:c.983T>C NP_004272.2:p.Val328Ala
XM_005270287.1:c.980T>C XP_005270344.1:p.Val327Ala
XM_005270287.2:c.980T>C XP_005270344.1:p.Val327Ala
NM_004281.4:c.983T>C MANE Select NP_004272.2:p.Val328Ala
Search 100 bp 5'
Search 100 bp 3'