Canonical Allele Identifier: CA347312687
Gene: BOLA3 HGNC NCBI

Linked Data

gnomAD v4: 2-74145278-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74145278G>T , CM000664.2:g.74145278G>T GRCh38
NC_000002.11:g.74372405G>T , CM000664.1:g.74372405G>T GRCh37
NC_000002.10:g.74225913G>T NCBI36
NG_031910.1:g.7635C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327428.10:c.80C>A MANE Select ENSP00000331369.5:p.Ala27Asp
ENST00000295326.4:c.80C>A ENSP00000295326.4:p.Ala27Asp
ENST00000327428.9:c.80C>A ENSP00000331369.5:p.Ala27Asp
ENST00000469676.1:n.1103C>A
ENST00000477685.5:n.231C>A
ENST00000484655.1:n.2635C>A
NM_001035505.1:c.80C>A NP_001030582.1:p.Ala27Asp
NM_212552.2:c.80C>A NP_997717.2:p.Ala27Asp
NM_212552.3:c.80C>A MANE Select NP_997717.2:p.Ala27Asp
NM_001035505.2:c.80C>A NP_001030582.1:p.Ala27Asp