Canonical Allele Identifier: CA1717046895
Gene: BAZ1B HGNC NCBI

Linked Data

dbSNP Id: rs1787632555
gnomAD v4: 7-73441921-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73441921G>T , CM000669.2:g.73441921G>T GRCh38
NC_000007.13:g.72856251G>T , CM000669.1:g.72856251G>T GRCh37
NC_000007.12:g.72494187G>T NCBI36
NG_027679.1:g.85365C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000339594.9:c.*16-228C>A MANE Select ENSP00000342434.4:n.*16-228C>A
ENST00000339594.8:c.*16-228C>A ENSP00000342434.4:n.*16-228C>A
ENST00000404251.1:c.*275C>A ENSP00000385442.1:n.*275C>A
NM_032408.3:c.*16-228C>A NP_115784.1:n.*16-228C>A
XM_017012773.2:c.*275C>A XP_016868262.1:n.*275C>A
NM_032408.4:c.*16-228C>A MANE Select NP_115784.1:n.*16-228C>A
NM_001370402.1:c.*275C>A NP_001357331.1:n.*275C>A
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