Canonical Allele Identifier: CA2683216972
Gene: BAZ1B HGNC NCBI

Linked Data

gnomAD v4: 7-73441859-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73441859T>C , CM000669.2:g.73441859T>C GRCh38
NC_000007.13:g.72856189T>C , CM000669.1:g.72856189T>C GRCh37
NC_000007.12:g.72494125T>C NCBI36
NG_027679.1:g.85427A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000339594.9:c.*16-166A>G MANE Select ENSP00000342434.4:n.*16-166A>G
ENST00000339594.8:c.*16-166A>G ENSP00000342434.4:n.*16-166A>G
ENST00000404251.1:c.*337A>G ENSP00000385442.1:n.*337A>G
NM_032408.3:c.*16-166A>G NP_115784.1:n.*16-166A>G
XM_017012773.2:c.*337A>G XP_016868262.1:n.*337A>G
NM_032408.4:c.*16-166A>G MANE Select NP_115784.1:n.*16-166A>G
NM_001370402.1:c.*337A>G NP_001357331.1:n.*337A>G