Canonical Allele Identifier: CA842015609
Gene: BAZ1B HGNC NCBI

Linked Data

dbSNP Id: rs1210997789
gnomAD v3: 7-73441957-G-A
gnomAD v4: 7-73441957-G-A
MyVariant Identifiers: chr7:g.73441957G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73441957G>A , CM000669.2:g.73441957G>A GRCh38
NC_000007.13:g.72856287G>A , CM000669.1:g.72856287G>A GRCh37
NC_000007.12:g.72494223G>A NCBI36
NG_027679.1:g.85329C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000339594.9:c.*15+224C>T MANE Select ENSP00000342434.4:n.*15+224C>T
ENST00000339594.8:c.*15+224C>T ENSP00000342434.4:n.*15+224C>T
ENST00000404251.1:c.*239C>T ENSP00000385442.1:n.*239C>T
NM_032408.3:c.*15+224C>T NP_115784.1:n.*15+224C>T
XM_017012773.2:c.*239C>T XP_016868262.1:n.*239C>T
NM_032408.4:c.*15+224C>T MANE Select NP_115784.1:n.*15+224C>T
NM_001370402.1:c.*239C>T NP_001357331.1:n.*239C>T