Canonical Allele Identifier: CA2659654007
Gene: BOLA3 HGNC NCBI

Linked Data

gnomAD v4: 2-74145141-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74145141G>A , CM000664.2:g.74145141G>A GRCh38
NC_000002.11:g.74372268G>A , CM000664.1:g.74372268G>A GRCh37
NC_000002.10:g.74225776G>A NCBI36
NG_031910.1:g.7772C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000327428.10:c.169+48C>T MANE Select ENSP00000331369.5:n.169+48C>T
ENST00000295326.4:c.169+48C>T ENSP00000295326.4:n.169+48C>T
ENST00000327428.9:c.169+48C>T ENSP00000331369.5:n.169+48C>T
ENST00000469676.1:n.1192+48C>T
ENST00000477685.5:n.320+48C>T
ENST00000484655.1:n.2724+48C>T
NM_001035505.1:c.169+48C>T NP_001030582.1:n.169+48C>T
NM_212552.2:c.169+48C>T NP_997717.2:n.169+48C>T
NM_212552.3:c.169+48C>T MANE Select NP_997717.2:n.169+48C>T
NM_001035505.2:c.169+48C>T NP_001030582.1:n.169+48C>T
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