Canonical Allele Identifier: CA842015594

Gene: BAZ1B

Linked Data

• dbSNP Id: rs1176470975
• gnomAD v3: 7-73441944-T-A
• gnomAD v4: 7-73441944-T-A
• MyVariant Identifiers: chr7:g.73441944T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73441944T>A , CM000669.2:g.73441944T>A	GRCh38
NC_000007.13:g.72856274T>A , CM000669.1:g.72856274T>A	GRCh37
NC_000007.12:g.72494210T>A	NCBI36
NG_027679.1:g.85342A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000339594.9:c.*15+237A>T MANE Select	ENSP00000342434.4:n.*15+237A>T
ENST00000339594.8:c.*15+237A>T	ENSP00000342434.4:n.*15+237A>T
ENST00000404251.1:c.*252A>T	ENSP00000385442.1:n.*252A>T
NM_032408.3:c.*15+237A>T	NP_115784.1:n.*15+237A>T
XM_017012773.2:c.*252A>T	XP_016868262.1:n.*252A>T
NM_032408.4:c.*15+237A>T MANE Select	NP_115784.1:n.*15+237A>T
NM_001370402.1:c.*252A>T	NP_001357331.1:n.*252A>T