Canonical Allele Identifier: CA10576780
Gene: BAG3 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.119676672G>A
GRCh37 chr10:g.121436184G>A
Revel Score:
ENST00000369085 (MANE Select) 0.147
ENST00000450186 0.147
gnomAD v3:
10:119676672 G / A
gnomAD v4:
chr10-119676672-G-A
Joint Max Group AF 0.000005 (NFE)
Exomes Max Group AF 0.00000455 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.119676672G>A , CM000672.2:g.119676672G>A GRCh38
NC_000010.10:g.121436184G>A , CM000672.1:g.121436184G>A GRCh37
NC_000010.9:g.121426174G>A NCBI36
NG_016125.1:g.30303G>A , LRG_742:g.30303G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369085.8:c.1118G>A MANE Select ENSP00000358081.4:p.Cys373Tyr
ENST00000369085.7:c.1118G>A ENSP00000358081.3:p.Cys373Tyr
ENST00000450186.1:c.941G>A ENSP00000410036.1:p.Cys314Tyr
NM_004281.3:c.1118G>A , LRG_742t1:c.1118G>A NP_004272.2:p.Cys373Tyr
XM_005270287.1:c.1115G>A XP_005270344.1:p.Cys372Tyr
XM_005270287.2:c.1115G>A XP_005270344.1:p.Cys372Tyr
NM_004281.4:c.1118G>A MANE Select NP_004272.2:p.Cys373Tyr
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