Canonical Allele Identifier: CA426814034
Gene: BOLA3 HGNC NCBI

Linked Data

gnomAD v4: 2-74145286-C-G
MyVariant Identifiers: chr2:g.74372413C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74145286C>G , CM000664.2:g.74145286C>G GRCh38
NC_000002.11:g.74372413C>G , CM000664.1:g.74372413C>G GRCh37
NC_000002.10:g.74225921C>G NCBI36
NG_031910.1:g.7627G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327428.10:c.72G>C MANE Select ENSP00000331369.5:p.Arg24=
ENST00000295326.4:c.72G>C ENSP00000295326.4:p.Arg24=
ENST00000327428.9:c.72G>C ENSP00000331369.5:p.Arg24=
ENST00000469676.1:n.1095G>C
ENST00000477685.5:n.223G>C
ENST00000484655.1:n.2627G>C
NM_001035505.1:c.72G>C NP_001030582.1:p.Arg24=
NM_212552.2:c.72G>C NP_997717.2:p.Arg24=
NM_212552.3:c.72G>C MANE Select NP_997717.2:p.Arg24=
NM_001035505.2:c.72G>C NP_001030582.1:p.Arg24=
Search 100 bp 5'
Search 100 bp 3'