Canonical Allele Identifier: CA2683216960
Gene: BAZ1B HGNC NCBI

Linked Data

gnomAD v4: 7-73441850-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73441850A>G , CM000669.2:g.73441850A>G GRCh38
NC_000007.13:g.72856180A>G , CM000669.1:g.72856180A>G GRCh37
NC_000007.12:g.72494116A>G NCBI36
NG_027679.1:g.85436T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000339594.9:c.*16-157T>C MANE Select ENSP00000342434.4:n.*16-157T>C
ENST00000339594.8:c.*16-157T>C ENSP00000342434.4:n.*16-157T>C
ENST00000404251.1:c.*346T>C ENSP00000385442.1:n.*346T>C
NM_032408.3:c.*16-157T>C NP_115784.1:n.*16-157T>C
XM_017012773.2:c.*346T>C XP_016868262.1:n.*346T>C
NM_032408.4:c.*16-157T>C MANE Select NP_115784.1:n.*16-157T>C
NM_001370402.1:c.*346T>C NP_001357331.1:n.*346T>C