Canonical Allele Identifier: CA2683217062

Gene: BAZ1B

Linked Data

• gnomAD v4: 7-73441945-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73441945C>G , CM000669.2:g.73441945C>G	GRCh38
NC_000007.13:g.72856275C>G , CM000669.1:g.72856275C>G	GRCh37
NC_000007.12:g.72494211C>G	NCBI36
NG_027679.1:g.85341G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000339594.9:c.*15+236G>C MANE Select	ENSP00000342434.4:n.*15+236G>C
ENST00000339594.8:c.*15+236G>C	ENSP00000342434.4:n.*15+236G>C
ENST00000404251.1:c.*251G>C	ENSP00000385442.1:n.*251G>C
NM_032408.3:c.*15+236G>C	NP_115784.1:n.*15+236G>C
XM_017012773.2:c.*251G>C	XP_016868262.1:n.*251G>C
NM_032408.4:c.*15+236G>C MANE Select	NP_115784.1:n.*15+236G>C
NM_001370402.1:c.*251G>C	NP_001357331.1:n.*251G>C