Canonical Allele Identifier: CA2659653996
Gene: BOLA3 HGNC NCBI

Linked Data

gnomAD v4: 2-74145126-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74145126C>T , CM000664.2:g.74145126C>T GRCh38
NC_000002.11:g.74372253C>T , CM000664.1:g.74372253C>T GRCh37
NC_000002.10:g.74225761C>T NCBI36
NG_031910.1:g.7787G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000327428.10:c.169+63G>A MANE Select ENSP00000331369.5:n.169+63G>A
ENST00000295326.4:c.169+63G>A ENSP00000295326.4:n.169+63G>A
ENST00000327428.9:c.169+63G>A ENSP00000331369.5:n.169+63G>A
ENST00000469676.1:n.1192+63G>A
ENST00000477685.5:n.320+63G>A
ENST00000484655.1:n.2724+63G>A
NM_001035505.1:c.169+63G>A NP_001030582.1:n.169+63G>A
NM_212552.2:c.169+63G>A NP_997717.2:n.169+63G>A
NM_212552.3:c.169+63G>A MANE Select NP_997717.2:n.169+63G>A
NM_001035505.2:c.169+63G>A NP_001030582.1:n.169+63G>A
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