Canonical Allele Identifier: CA347312658

Gene: BOLA3

Linked Data

• dbSNP Id: rs1692523452
• gnomAD v3: 2-74145271-C-G
• gnomAD v4: 2-74145271-C-G
• MyVariant Identifiers: chr2:g.74372398C>G (hg19) ; chr2:g.74145271C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74145271C>G , CM000664.2:g.74145271C>G	GRCh38
NC_000002.11:g.74372398C>G , CM000664.1:g.74372398C>G	GRCh37
NC_000002.10:g.74225906C>G	NCBI36
NG_031910.1:g.7642G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327428.10:c.87G>C MANE Select	ENSP00000331369.5:p.Gln29His
ENST00000295326.4:c.87G>C	ENSP00000295326.4:p.Gln29His
ENST00000327428.9:c.87G>C	ENSP00000331369.5:p.Gln29His
ENST00000469676.1:n.1110G>C
ENST00000477685.5:n.238G>C
ENST00000484655.1:n.2642G>C
NM_001035505.1:c.87G>C	NP_001030582.1:p.Gln29His
NM_212552.2:c.87G>C	NP_997717.2:p.Gln29His
NM_212552.3:c.87G>C MANE Select	NP_997717.2:p.Gln29His
NM_001035505.2:c.87G>C	NP_001030582.1:p.Gln29His