Canonical Allele Identifier: CA2683216959
Gene: BAZ1B HGNC NCBI

Linked Data

gnomAD v4: 7-73441849-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73441849C>A , CM000669.2:g.73441849C>A GRCh38
NC_000007.13:g.72856179C>A , CM000669.1:g.72856179C>A GRCh37
NC_000007.12:g.72494115C>A NCBI36
NG_027679.1:g.85437G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000339594.9:c.*16-156G>T MANE Select ENSP00000342434.4:n.*16-156G>T
ENST00000339594.8:c.*16-156G>T ENSP00000342434.4:n.*16-156G>T
ENST00000404251.1:c.*347G>T ENSP00000385442.1:n.*347G>T
NM_032408.3:c.*16-156G>T NP_115784.1:n.*16-156G>T
XM_017012773.2:c.*347G>T XP_016868262.1:n.*347G>T
NM_032408.4:c.*16-156G>T MANE Select NP_115784.1:n.*16-156G>T
NM_001370402.1:c.*347G>T NP_001357331.1:n.*347G>T