Canonical Allele Identifier: CA347312758
Gene: BOLA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.74372420T>C (hg19) chr2:g.74145293T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74145293T>C , CM000664.2:g.74145293T>C GRCh38
NC_000002.11:g.74372420T>C , CM000664.1:g.74372420T>C GRCh37
NC_000002.10:g.74225928T>C NCBI36
NG_031910.1:g.7620A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327428.10:c.65A>G MANE Select ENSP00000331369.5:p.His22Arg
ENST00000295326.4:c.65A>G ENSP00000295326.4:p.His22Arg
ENST00000327428.9:c.65A>G ENSP00000331369.5:p.His22Arg
ENST00000469676.1:n.1088A>G
ENST00000477685.5:n.216A>G
ENST00000484655.1:n.2620A>G
NM_001035505.1:c.65A>G NP_001030582.1:p.His22Arg
NM_212552.2:c.65A>G NP_997717.2:p.His22Arg
NM_212552.3:c.65A>G MANE Select NP_997717.2:p.His22Arg
NM_001035505.2:c.65A>G NP_001030582.1:p.His22Arg
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