Canonical Allele Identifier: CA5716422
Gene: BAG3 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.119672583C>T
GRCh37 chr10:g.121432095C>T
Revel Score:
ENST00000369085 (MANE Select) 0.440
ENST00000450186 0.440
gnomAD v3:
10:119672583 C / T
gnomAD v4:
chr10-119672583-C-T
Joint Max Group AF 0.00002074 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00002082 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.119672583C>T , CM000672.2:g.119672583C>T GRCh38
NC_000010.10:g.121432095C>T , CM000672.1:g.121432095C>T GRCh37
NC_000010.9:g.121422085C>T NCBI36
NG_016125.1:g.26214C>T , LRG_742:g.26214C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369085.8:c.836C>T MANE Select ENSP00000358081.4:p.Ser279Leu
ENST00000369085.7:c.836C>T ENSP00000358081.3:p.Ser279Leu
ENST00000450186.1:c.662C>T ENSP00000410036.1:p.Ser221Leu
NM_004281.3:c.836C>T , LRG_742t1:c.836C>T NP_004272.2:p.Ser279Leu
XM_005270287.1:c.836C>T XP_005270344.1:p.Ser279Leu
XM_005270287.2:c.836C>T XP_005270344.1:p.Ser279Leu
NM_004281.4:c.836C>T MANE Select NP_004272.2:p.Ser279Leu
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