Canonical Allele Identifier: CA160072009
Gene: BAZ1B HGNC NCBI

Linked Data

dbSNP Id: rs952448606
gnomAD v2: 7-72856858-C-T
gnomAD v3: 7-73442528-C-T
gnomAD v4: 7-73442528-C-T
MyVariant Identifiers: chr7:g.72856858C>T (hg19) chr7:g.73442528C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73442528C>T , CM000669.2:g.73442528C>T GRCh38
NC_000007.13:g.72856858C>T , CM000669.1:g.72856858C>T GRCh37
NC_000007.12:g.72494794C>T NCBI36
NG_027679.1:g.84758G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000339594.9:c.4120G>A MANE Select ENSP00000342434.4:p.Glu1374Lys
ENST00000339594.8:c.4120G>A ENSP00000342434.4:p.Glu1374Lys
ENST00000404251.1:c.4120G>A ENSP00000385442.1:p.Glu1374Lys
NM_032408.3:c.4120G>A NP_115784.1:p.Glu1374Lys
XM_017012773.2:c.4120G>A XP_016868262.1:p.Glu1374Lys
NM_032408.4:c.4120G>A MANE Select NP_115784.1:p.Glu1374Lys
NM_001370402.1:c.4120G>A NP_001357331.1:p.Glu1374Lys
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