Canonical Allele Identifier: CA2683217057
Gene: BAZ1B HGNC NCBI

Linked Data

gnomAD v4: 7-73441941-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73441941C>A , CM000669.2:g.73441941C>A GRCh38
NC_000007.13:g.72856271C>A , CM000669.1:g.72856271C>A GRCh37
NC_000007.12:g.72494207C>A NCBI36
NG_027679.1:g.85345G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000339594.9:c.*15+240G>T MANE Select ENSP00000342434.4:n.*15+240G>T
ENST00000339594.8:c.*15+240G>T ENSP00000342434.4:n.*15+240G>T
ENST00000404251.1:c.*255G>T ENSP00000385442.1:n.*255G>T
NM_032408.3:c.*15+240G>T NP_115784.1:n.*15+240G>T
XM_017012773.2:c.*255G>T XP_016868262.1:n.*255G>T
NM_032408.4:c.*15+240G>T MANE Select NP_115784.1:n.*15+240G>T
NM_001370402.1:c.*255G>T NP_001357331.1:n.*255G>T
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