Canonical Allele Identifier: CA471739538
Gene: BAG3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1602616
ClinVar RCV Id: RCV002141501
dbSNP Id: rs2134069254
gnomAD v4: 10-119676910-G-A
MyVariant Identifiers: chr10:g.121436422G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.119676910G>A , CM000672.2:g.119676910G>A GRCh38
NC_000010.10:g.121436422G>A , CM000672.1:g.121436422G>A GRCh37
NC_000010.9:g.121426412G>A NCBI36
NG_016125.1:g.30541G>A , LRG_742:g.30541G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369085.8:c.1356G>A MANE Select ENSP00000358081.4:p.Leu452=
ENST00000369085.7:c.1356G>A ENSP00000358081.3:p.Leu452=
NM_004281.3:c.1356G>A , LRG_742t1:c.1356G>A NP_004272.2:p.Leu452=
XM_005270287.1:c.1353G>A XP_005270344.1:p.Leu451=
XM_005270287.2:c.1353G>A XP_005270344.1:p.Leu451=
NM_004281.4:c.1356G>A MANE Select NP_004272.2:p.Leu452=
Search 100 bp 5'
Search 100 bp 3'