Canonical Allele Identifier: CA1719488
Gene: BOLA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1926617
ClinVar RCV Id: RCV002630754
dbSNP Id: rs372348759
ExAC: 2:74372302 G / A
gnomAD v2: 2-74372302-G-A
gnomAD v3: 2-74145175-G-A
gnomAD v4: 2-74145175-G-A
MyVariant Identifiers: chr2:g.74372302G>A (hg19) chr2:g.74145175G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74145175G>A , CM000664.2:g.74145175G>A GRCh38
NC_000002.11:g.74372302G>A , CM000664.1:g.74372302G>A GRCh37
NC_000002.10:g.74225810G>A NCBI36
NG_031910.1:g.7738C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327428.10:c.169+14C>T MANE Select ENSP00000331369.5:n.169+14C>T
ENST00000295326.4:c.169+14C>T ENSP00000295326.4:n.169+14C>T
ENST00000327428.9:c.169+14C>T ENSP00000331369.5:n.169+14C>T
ENST00000469676.1:n.1192+14C>T
ENST00000477685.5:n.320+14C>T
ENST00000484655.1:n.2724+14C>T
NM_001035505.1:c.169+14C>T NP_001030582.1:n.169+14C>T
NM_212552.2:c.169+14C>T NP_997717.2:n.169+14C>T
NM_212552.3:c.169+14C>T MANE Select NP_997717.2:n.169+14C>T
NM_001035505.2:c.169+14C>T NP_001030582.1:n.169+14C>T
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