Canonical Allele Identifier: CA1719477

Gene: BOLA3

Linked Data

• dbSNP Id: rs752181471
• ExAC: 2:74372269 G / A
• gnomAD v2: 2-74372269-G-A
• gnomAD v4: 2-74145142-G-A
• MyVariant Identifiers: chr2:g.74372269G>A (hg19) ; chr2:g.74145142G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74145142G>A , CM000664.2:g.74145142G>A	GRCh38
NC_000002.11:g.74372269G>A , CM000664.1:g.74372269G>A	GRCh37
NC_000002.10:g.74225777G>A	NCBI36
NG_031910.1:g.7771C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000327428.10:c.169+47C>T MANE Select	ENSP00000331369.5:n.169+47C>T
ENST00000295326.4:c.169+47C>T	ENSP00000295326.4:n.169+47C>T
ENST00000327428.9:c.169+47C>T	ENSP00000331369.5:n.169+47C>T
ENST00000469676.1:n.1192+47C>T
ENST00000477685.5:n.320+47C>T
ENST00000484655.1:n.2724+47C>T
NM_001035505.1:c.169+47C>T	NP_001030582.1:n.169+47C>T
NM_212552.2:c.169+47C>T	NP_997717.2:n.169+47C>T
NM_212552.3:c.169+47C>T MANE Select	NP_997717.2:n.169+47C>T
NM_001035505.2:c.169+47C>T	NP_001030582.1:n.169+47C>T