Canonical Allele Identifier: CA347312590
Gene: BOLA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.74372386C>G (hg19) chr2:g.74145259C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74145259C>G , CM000664.2:g.74145259C>G GRCh38
NC_000002.11:g.74372386C>G , CM000664.1:g.74372386C>G GRCh37
NC_000002.10:g.74225894C>G NCBI36
NG_031910.1:g.7654G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327428.10:c.99G>C MANE Select ENSP00000331369.5:p.Glu33Asp
ENST00000295326.4:c.99G>C ENSP00000295326.4:p.Glu33Asp
ENST00000327428.9:c.99G>C ENSP00000331369.5:p.Glu33Asp
ENST00000469676.1:n.1122G>C
ENST00000477685.5:n.250G>C
ENST00000484655.1:n.2654G>C
NM_001035505.1:c.99G>C NP_001030582.1:p.Glu33Asp
NM_212552.2:c.99G>C NP_997717.2:p.Glu33Asp
NM_212552.3:c.99G>C MANE Select NP_997717.2:p.Glu33Asp
NM_001035505.2:c.99G>C NP_001030582.1:p.Glu33Asp
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