Canonical Allele Identifier: CA347312337

Gene: BOLA3

Linked Data

• dbSNP Id: rs1161746284
• gnomAD v2: 2-74372334-T-C
• gnomAD v4: 2-74145207-T-C
• MyVariant Identifiers: chr2:g.74372334T>C (hg19) ; chr2:g.74145207T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74145207T>C , CM000664.2:g.74145207T>C	GRCh38
NC_000002.11:g.74372334T>C , CM000664.1:g.74372334T>C	GRCh37
NC_000002.10:g.74225842T>C	NCBI36
NG_031910.1:g.7706A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327428.10:c.151A>G MANE Select	ENSP00000331369.5:p.Lys51Glu
ENST00000295326.4:c.151A>G	ENSP00000295326.4:p.Lys51Glu
ENST00000327428.9:c.151A>G	ENSP00000331369.5:p.Lys51Glu
ENST00000469676.1:n.1174A>G
ENST00000477685.5:n.302A>G
ENST00000484655.1:n.2706A>G
NM_001035505.1:c.151A>G	NP_001030582.1:p.Lys51Glu
NM_212552.2:c.151A>G	NP_997717.2:p.Lys51Glu
NM_212552.3:c.151A>G MANE Select	NP_997717.2:p.Lys51Glu
NM_001035505.2:c.151A>G	NP_001030582.1:p.Lys51Glu