Canonical Allele Identifier: CA347312594

Gene: BOLA3

Linked Data

• dbSNP Id: rs1370794593
• gnomAD v2: 2-74372387-T-G
• gnomAD v3: 2-74145260-T-G
• gnomAD v4: 2-74145260-T-G
• MyVariant Identifiers: chr2:g.74372387T>G (hg19) ; chr2:g.74145260T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74145260T>G , CM000664.2:g.74145260T>G	GRCh38
NC_000002.11:g.74372387T>G , CM000664.1:g.74372387T>G	GRCh37
NC_000002.10:g.74225895T>G	NCBI36
NG_031910.1:g.7653A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327428.10:c.98A>C MANE Select	ENSP00000331369.5:p.Glu33Ala
ENST00000295326.4:c.98A>C	ENSP00000295326.4:p.Glu33Ala
ENST00000327428.9:c.98A>C	ENSP00000331369.5:p.Glu33Ala
ENST00000469676.1:n.1121A>C
ENST00000477685.5:n.249A>C
ENST00000484655.1:n.2653A>C
NM_001035505.1:c.98A>C	NP_001030582.1:p.Glu33Ala
NM_212552.2:c.98A>C	NP_997717.2:p.Glu33Ala
NM_212552.3:c.98A>C MANE Select	NP_997717.2:p.Glu33Ala
NM_001035505.2:c.98A>C	NP_001030582.1:p.Glu33Ala