Canonical Allele Identifier: CA16606637
Gene: BAG3 HGNC NCBI

Linked Data

ClinVar Variation Id: 389542
ClinVar RCV Id: RCV000437735
dbSNP Id: rs1057523462

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.119672316C>T , CM000672.2:g.119672316C>T GRCh38
NC_000010.10:g.121431828C>T , CM000672.1:g.121431828C>T GRCh37
NC_000010.9:g.121421818C>T NCBI36
NG_016125.1:g.25947C>T , LRG_742:g.25947C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369085.8:c.569C>T MANE Select ENSP00000358081.4:p.Ser190Phe
ENST00000369085.7:c.569C>T ENSP00000358081.3:p.Ser190Phe
ENST00000450186.1:c.395C>T ENSP00000410036.1:p.Ser132Phe
NM_004281.3:c.569C>T , LRG_742t1:c.569C>T NP_004272.2:p.Ser190Phe
XM_005270287.1:c.569C>T XP_005270344.1:p.Ser190Phe
XM_005270287.2:c.569C>T XP_005270344.1:p.Ser190Phe
NM_004281.4:c.569C>T MANE Select NP_004272.2:p.Ser190Phe