Canonical Allele Identifier: CA5716424
Gene: BAG3 HGNC NCBI

Linked Data

ClinVar Variation Id: 969204
ClinVar RCV Id: RCV001244497 RCV002447208 RCV003145480
dbSNP Id: rs375650805
ExAC: 10:121432113 C / T
gnomAD v2: 10-121432113-C-T
gnomAD v3: 10-119672601-C-T
gnomAD v4: 10-119672601-C-T
COSMIC: COSM73802
MyVariant Identifiers: chr10:g.121432113C>T (hg19) chr10:g.119672601C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.119672601C>T , CM000672.2:g.119672601C>T GRCh38
NC_000010.10:g.121432113C>T , CM000672.1:g.121432113C>T GRCh37
NC_000010.9:g.121422103C>T NCBI36
NG_016125.1:g.26232C>T , LRG_742:g.26232C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369085.8:c.854C>T MANE Select ENSP00000358081.4:p.Thr285Met
ENST00000369085.7:c.854C>T ENSP00000358081.3:p.Thr285Met
ENST00000450186.1:c.680C>T ENSP00000410036.1:p.Thr227Met
NM_004281.3:c.854C>T , LRG_742t1:c.854C>T NP_004272.2:p.Thr285Met
XM_005270287.1:c.854C>T XP_005270344.1:p.Thr285Met
XM_005270287.2:c.854C>T XP_005270344.1:p.Thr285Met
NM_004281.4:c.854C>T MANE Select NP_004272.2:p.Thr285Met
Search 100 bp 5'
Search 100 bp 3'