Canonical Allele Identifier: CA2683216968
Gene: BAZ1B HGNC NCBI

Linked Data

gnomAD v4: 7-73441855-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73441855G>T , CM000669.2:g.73441855G>T GRCh38
NC_000007.13:g.72856185G>T , CM000669.1:g.72856185G>T GRCh37
NC_000007.12:g.72494121G>T NCBI36
NG_027679.1:g.85431C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000339594.9:c.*16-162C>A MANE Select ENSP00000342434.4:n.*16-162C>A
ENST00000339594.8:c.*16-162C>A ENSP00000342434.4:n.*16-162C>A
ENST00000404251.1:c.*341C>A ENSP00000385442.1:n.*341C>A
NM_032408.3:c.*16-162C>A NP_115784.1:n.*16-162C>A
XM_017012773.2:c.*341C>A XP_016868262.1:n.*341C>A
NM_032408.4:c.*16-162C>A MANE Select NP_115784.1:n.*16-162C>A
NM_001370402.1:c.*341C>A NP_001357331.1:n.*341C>A