Canonical Allele Identifier: CA1719458

Gene: BOLA3

Linked Data

• ClinVar Variation Id: 390067
• ClinVar RCV Id: RCV000437970 ; RCV000677025 ; RCV001142217
• dbSNP Id: rs201380456
• ExAC: 2:74369390 T / G
• gnomAD v2: 2-74369390-T-G
• gnomAD v3: 2-74142263-T-G
• gnomAD v4: 2-74142263-T-G
• MyVariant Identifiers: chr2:g.74369390T>G (hg19) ; chr2:g.74142263T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74142263T>G , CM000664.2:g.74142263T>G	GRCh38
NC_000002.11:g.74369390T>G , CM000664.1:g.74369390T>G	GRCh37
NC_000002.10:g.74222898T>G	NCBI36
NG_031910.1:g.10650A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327428.10:c.258+9A>C MANE Select	ENSP00000331369.5:n.258+9A>C
ENST00000295326.4:c.169+2926A>C	ENSP00000295326.4:n.169+2926A>C
ENST00000327428.9:c.258+9A>C	ENSP00000331369.5:n.258+9A>C
ENST00000469676.1:n.1192+2926A>C
ENST00000477685.5:n.409+9A>C
ENST00000484655.1:n.2724+2926A>C
NM_001035505.1:c.169+2926A>C	NP_001030582.1:n.169+2926A>C
NM_212552.2:c.258+9A>C	NP_997717.2:n.258+9A>C
NM_212552.3:c.258+9A>C MANE Select	NP_997717.2:n.258+9A>C
NM_001035505.2:c.169+2926A>C	NP_001030582.1:n.169+2926A>C