Canonical Allele Identifier: CA1103023539

Gene: BAZ1B

Linked Data

• dbSNP Id: rs1787633383
• gnomAD v3: 7-73441941-C-T
• gnomAD v4: 7-73441941-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73441941C>T , CM000669.2:g.73441941C>T	GRCh38
NC_000007.13:g.72856271C>T , CM000669.1:g.72856271C>T	GRCh37
NC_000007.12:g.72494207C>T	NCBI36
NG_027679.1:g.85345G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000339594.9:c.*15+240G>A MANE Select	ENSP00000342434.4:n.*15+240G>A
ENST00000339594.8:c.*15+240G>A	ENSP00000342434.4:n.*15+240G>A
ENST00000404251.1:c.*255G>A	ENSP00000385442.1:n.*255G>A
NM_032408.3:c.*15+240G>A	NP_115784.1:n.*15+240G>A
XM_017012773.2:c.*255G>A	XP_016868262.1:n.*255G>A
NM_032408.4:c.*15+240G>A MANE Select	NP_115784.1:n.*15+240G>A
NM_001370402.1:c.*255G>A	NP_001357331.1:n.*255G>A