Canonical Allele Identifier: CA2683217056

Gene: BAZ1B

Linked Data

• gnomAD v4: 7-73441940-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73441940A>C , CM000669.2:g.73441940A>C	GRCh38
NC_000007.13:g.72856270A>C , CM000669.1:g.72856270A>C	GRCh37
NC_000007.12:g.72494206A>C	NCBI36
NG_027679.1:g.85346T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000339594.9:c.*15+241T>G MANE Select	ENSP00000342434.4:n.*15+241T>G
ENST00000339594.8:c.*15+241T>G	ENSP00000342434.4:n.*15+241T>G
ENST00000404251.1:c.*256T>G	ENSP00000385442.1:n.*256T>G
NM_032408.3:c.*15+241T>G	NP_115784.1:n.*15+241T>G
XM_017012773.2:c.*256T>G	XP_016868262.1:n.*256T>G
NM_032408.4:c.*15+241T>G MANE Select	NP_115784.1:n.*15+241T>G
NM_001370402.1:c.*256T>G	NP_001357331.1:n.*256T>G