Canonical Allele Identifier: CA2683217068

Gene: BAZ1B

Linked Data

• gnomAD v4: 7-73441953-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73441953T>C , CM000669.2:g.73441953T>C	GRCh38
NC_000007.13:g.72856283T>C , CM000669.1:g.72856283T>C	GRCh37
NC_000007.12:g.72494219T>C	NCBI36
NG_027679.1:g.85333A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000339594.9:c.*15+228A>G MANE Select	ENSP00000342434.4:n.*15+228A>G
ENST00000339594.8:c.*15+228A>G	ENSP00000342434.4:n.*15+228A>G
ENST00000404251.1:c.*243A>G	ENSP00000385442.1:n.*243A>G
NM_032408.3:c.*15+228A>G	NP_115784.1:n.*15+228A>G
XM_017012773.2:c.*243A>G	XP_016868262.1:n.*243A>G
NM_032408.4:c.*15+228A>G MANE Select	NP_115784.1:n.*15+228A>G
NM_001370402.1:c.*243A>G	NP_001357331.1:n.*243A>G