Canonical Allele Identifier: CA1719475

Gene: BOLA3

Linked Data

• dbSNP Id: rs754643788
• ExAC: 2:74372266 A / G
• gnomAD v2: 2-74372266-A-G
• gnomAD v4: 2-74145139-A-G
• MyVariant Identifiers: chr2:g.74372266A>G (hg19) ; chr2:g.74145139A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74145139A>G , CM000664.2:g.74145139A>G	GRCh38
NC_000002.11:g.74372266A>G , CM000664.1:g.74372266A>G	GRCh37
NC_000002.10:g.74225774A>G	NCBI36
NG_031910.1:g.7774T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000327428.10:c.169+50T>C MANE Select	ENSP00000331369.5:n.169+50T>C
ENST00000295326.4:c.169+50T>C	ENSP00000295326.4:n.169+50T>C
ENST00000327428.9:c.169+50T>C	ENSP00000331369.5:n.169+50T>C
ENST00000469676.1:n.1192+50T>C
ENST00000477685.5:n.320+50T>C
ENST00000484655.1:n.2724+50T>C
NM_001035505.1:c.169+50T>C	NP_001030582.1:n.169+50T>C
NM_212552.2:c.169+50T>C	NP_997717.2:n.169+50T>C
NM_212552.3:c.169+50T>C MANE Select	NP_997717.2:n.169+50T>C
NM_001035505.2:c.169+50T>C	NP_001030582.1:n.169+50T>C