Canonical Allele Identifier: CA50435997

Gene: BOLA3

Linked Data

• ClinVar Variation Id: 516412
• ClinVar RCV Id: RCV000614894 ; RCV002064366
• dbSNP Id: rs995996267
• gnomAD v2: 2-74374936-G-C
• gnomAD v3: 2-74147809-G-C
• gnomAD v4: 2-74147809-G-C
• MyVariant Identifiers: chr2:g.74374936G>C (hg19) ; chr2:g.74147809G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74147809G>C , CM000664.2:g.74147809G>C	GRCh38
NC_000002.11:g.74374936G>C , CM000664.1:g.74374936G>C	GRCh37
NC_000002.10:g.74228444G>C	NCBI36
NG_031910.1:g.5104C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327428.10:c.54+12C>G MANE Select	ENSP00000331369.5:n.54+12C>G
ENST00000295326.4:c.54+12C>G	ENSP00000295326.4:n.54+12C>G
ENST00000327428.9:c.54+12C>G	ENSP00000331369.5:n.54+12C>G
ENST00000469676.1:n.92+12C>G
ENST00000484655.1:n.104C>G
NM_001035505.1:c.54+12C>G	NP_001030582.1:n.54+12C>G
NM_212552.2:c.54+12C>G	NP_997717.2:n.54+12C>G
NM_212552.3:c.54+12C>G MANE Select	NP_997717.2:n.54+12C>G
NM_001035505.2:c.54+12C>G	NP_001030582.1:n.54+12C>G