Canonical Allele Identifier: CA347312662
Gene: BOLA3 HGNC NCBI

Linked Data

gnomAD v4: 2-74145272-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74145272T>C , CM000664.2:g.74145272T>C GRCh38
NC_000002.11:g.74372399T>C , CM000664.1:g.74372399T>C GRCh37
NC_000002.10:g.74225907T>C NCBI36
NG_031910.1:g.7641A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327428.10:c.86A>G MANE Select ENSP00000331369.5:p.Gln29Arg
ENST00000295326.4:c.86A>G ENSP00000295326.4:p.Gln29Arg
ENST00000327428.9:c.86A>G ENSP00000331369.5:p.Gln29Arg
ENST00000469676.1:n.1109A>G
ENST00000477685.5:n.237A>G
ENST00000484655.1:n.2641A>G
NM_001035505.1:c.86A>G NP_001030582.1:p.Gln29Arg
NM_212552.2:c.86A>G NP_997717.2:p.Gln29Arg
NM_212552.3:c.86A>G MANE Select NP_997717.2:p.Gln29Arg
NM_001035505.2:c.86A>G NP_001030582.1:p.Gln29Arg