Canonical Allele Identifier: CA426814013

Gene: BOLA3

Linked Data

• ClinVar Variation Id: 752040
• ClinVar RCV Id: RCV000929158
• dbSNP Id: rs200756528
• MyVariant Identifiers: chr2:g.74372392C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74145265C>T , CM000664.2:g.74145265C>T	GRCh38
NC_000002.11:g.74372392C>T , CM000664.1:g.74372392C>T	GRCh37
NC_000002.10:g.74225900C>T	NCBI36
NG_031910.1:g.7648G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327428.10:c.93G>A MANE Select	ENSP00000331369.5:p.Glu31=
ENST00000295326.4:c.93G>A	ENSP00000295326.4:p.Glu31=
ENST00000327428.9:c.93G>A	ENSP00000331369.5:p.Glu31=
ENST00000469676.1:n.1116G>A
ENST00000477685.5:n.244G>A
ENST00000484655.1:n.2648G>A
NM_001035505.1:c.93G>A	NP_001030582.1:p.Glu31=
NM_212552.2:c.93G>A	NP_997717.2:p.Glu31=
NM_212552.3:c.93G>A MANE Select	NP_997717.2:p.Glu31=
NM_001035505.2:c.93G>A	NP_001030582.1:p.Glu31=