Canonical Allele Identifier: CA347312752
Gene: BOLA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.74372419G>C (hg19) chr2:g.74145292G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74145292G>C , CM000664.2:g.74145292G>C GRCh38
NC_000002.11:g.74372419G>C , CM000664.1:g.74372419G>C GRCh37
NC_000002.10:g.74225927G>C NCBI36
NG_031910.1:g.7621C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327428.10:c.66C>G MANE Select ENSP00000331369.5:p.His22Gln
ENST00000295326.4:c.66C>G ENSP00000295326.4:p.His22Gln
ENST00000327428.9:c.66C>G ENSP00000331369.5:p.His22Gln
ENST00000469676.1:n.1089C>G
ENST00000477685.5:n.217C>G
ENST00000484655.1:n.2621C>G
NM_001035505.1:c.66C>G NP_001030582.1:p.His22Gln
NM_212552.2:c.66C>G NP_997717.2:p.His22Gln
NM_212552.3:c.66C>G MANE Select NP_997717.2:p.His22Gln
NM_001035505.2:c.66C>G NP_001030582.1:p.His22Gln
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