Canonical Allele Identifier: CA1719497

Gene: BOLA3

Linked Data

• dbSNP Id: rs752164175
• ExAC: 2:74372351 G / C
• gnomAD v2: 2-74372351-G-C
• gnomAD v4: 2-74145224-G-C
• MyVariant Identifiers: chr2:g.74372351G>C (hg19) ; chr2:g.74145224G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74145224G>C , CM000664.2:g.74145224G>C	GRCh38
NC_000002.11:g.74372351G>C , CM000664.1:g.74372351G>C	GRCh37
NC_000002.10:g.74225859G>C	NCBI36
NG_031910.1:g.7689C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327428.10:c.134C>G MANE Select	ENSP00000331369.5:p.Pro45Arg
ENST00000295326.4:c.134C>G	ENSP00000295326.4:p.Pro45Arg
ENST00000327428.9:c.134C>G	ENSP00000331369.5:p.Pro45Arg
ENST00000469676.1:n.1157C>G
ENST00000477685.5:n.285C>G
ENST00000484655.1:n.2689C>G
NM_001035505.1:c.134C>G	NP_001030582.1:p.Pro45Arg
NM_212552.2:c.134C>G	NP_997717.2:p.Pro45Arg
NM_212552.3:c.134C>G MANE Select	NP_997717.2:p.Pro45Arg
NM_001035505.2:c.134C>G	NP_001030582.1:p.Pro45Arg