Canonical Allele Identifier: CA5716378
Gene: BAG3 HGNC NCBI

Linked Data

ClinVar Variation Id: 283564
ClinVar RCV Id: RCV001216071 RCV002356375
dbSNP Id: rs556000090
ExAC: 10:121431864 C / T
gnomAD v2: 10-121431864-C-T
gnomAD v3: 10-119672352-C-T
gnomAD v4: 10-119672352-C-T
MyVariant Identifiers: chr10:g.121431864C>T (hg19) chr10:g.119672352C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.119672352C>T , CM000672.2:g.119672352C>T GRCh38
NC_000010.10:g.121431864C>T , CM000672.1:g.121431864C>T GRCh37
NC_000010.9:g.121421854C>T NCBI36
NG_016125.1:g.25983C>T , LRG_742:g.25983C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369085.8:c.605C>T MANE Select ENSP00000358081.4:p.Pro202Leu
ENST00000369085.7:c.605C>T ENSP00000358081.3:p.Pro202Leu
ENST00000450186.1:c.431C>T ENSP00000410036.1:p.Pro144Leu
NM_004281.3:c.605C>T , LRG_742t1:c.605C>T NP_004272.2:p.Pro202Leu
XM_005270287.1:c.605C>T XP_005270344.1:p.Pro202Leu
XM_005270287.2:c.605C>T XP_005270344.1:p.Pro202Leu
NM_004281.4:c.605C>T MANE Select NP_004272.2:p.Pro202Leu
Search 100 bp 5'
Search 100 bp 3'