Canonical Allele Identifier: CA347312677
Gene: BOLA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1401092
ClinVar RCV Id: RCV001935005
dbSNP Id: rs1692523487
gnomAD v4: 2-74145276-T-C
MyVariant Identifiers: chr2:g.74372403T>C (hg19) chr2:g.74145276T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74145276T>C , CM000664.2:g.74145276T>C GRCh38
NC_000002.11:g.74372403T>C , CM000664.1:g.74372403T>C GRCh37
NC_000002.10:g.74225911T>C NCBI36
NG_031910.1:g.7637A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327428.10:c.82A>G MANE Select ENSP00000331369.5:p.Thr28Ala
ENST00000295326.4:c.82A>G ENSP00000295326.4:p.Thr28Ala
ENST00000327428.9:c.82A>G ENSP00000331369.5:p.Thr28Ala
ENST00000469676.1:n.1105A>G
ENST00000477685.5:n.233A>G
ENST00000484655.1:n.2637A>G
NM_001035505.1:c.82A>G NP_001030582.1:p.Thr28Ala
NM_212552.2:c.82A>G NP_997717.2:p.Thr28Ala
NM_212552.3:c.82A>G MANE Select NP_997717.2:p.Thr28Ala
NM_001035505.2:c.82A>G NP_001030582.1:p.Thr28Ala
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