Canonical Allele Identifier: CA10576777
Gene: BAG3 HGNC NCBI

Linked Data

ClinVar Variation Id: 228458
ClinVar RCV Id: RCV000218411
dbSNP Id: rs746241240

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.119672442A>T , CM000672.2:g.119672442A>T GRCh38
NC_000010.10:g.121431954A>T , CM000672.1:g.121431954A>T GRCh37
NC_000010.9:g.121421944A>T NCBI36
NG_016125.1:g.26073A>T , LRG_742:g.26073A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369085.8:c.695A>T MANE Select ENSP00000358081.4:p.His232Leu
ENST00000369085.7:c.695A>T ENSP00000358081.3:p.His232Leu
ENST00000450186.1:c.521A>T ENSP00000410036.1:p.His174Leu
NM_004281.3:c.695A>T , LRG_742t1:c.695A>T NP_004272.2:p.His232Leu
XM_005270287.1:c.695A>T XP_005270344.1:p.His232Leu
XM_005270287.2:c.695A>T XP_005270344.1:p.His232Leu
NM_004281.4:c.695A>T MANE Select NP_004272.2:p.His232Leu