Canonical Allele Identifier: CA1719496

Gene: BOLA3

Linked Data

• ClinVar Variation Id: 337058
• ClinVar RCV Id: RCV000324798 ; RCV002051844 ; RCV003957737
• dbSNP Id: rs144366005
• ExAC: 2:74372348 C / T
• gnomAD v2: 2-74372348-C-T
• gnomAD v3: 2-74145221-C-T
• gnomAD v4: 2-74145221-C-T
• MyVariant Identifiers: chr2:g.74372348C>T (hg19) ; chr2:g.74145221C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74145221C>T , CM000664.2:g.74145221C>T	GRCh38
NC_000002.11:g.74372348C>T , CM000664.1:g.74372348C>T	GRCh37
NC_000002.10:g.74225856C>T	NCBI36
NG_031910.1:g.7692G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327428.10:c.137G>A MANE Select	ENSP00000331369.5:p.Arg46Gln
ENST00000295326.4:c.137G>A	ENSP00000295326.4:p.Arg46Gln
ENST00000327428.9:c.137G>A	ENSP00000331369.5:p.Arg46Gln
ENST00000469676.1:n.1160G>A
ENST00000477685.5:n.288G>A
ENST00000484655.1:n.2692G>A
NM_001035505.1:c.137G>A	NP_001030582.1:p.Arg46Gln
NM_212552.2:c.137G>A	NP_997717.2:p.Arg46Gln
NM_212552.3:c.137G>A MANE Select	NP_997717.2:p.Arg46Gln
NM_001035505.2:c.137G>A	NP_001030582.1:p.Arg46Gln