Canonical Allele Identifier: CA367787638

Gene: BAZ1B

Linked Data

• gnomAD v4: 7-73442525-C-T
• MyVariant Identifiers: chr7:g.72856855C>T (hg19) ; chr7:g.73442525C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73442525C>T , CM000669.2:g.73442525C>T	GRCh38
NC_000007.13:g.72856855C>T , CM000669.1:g.72856855C>T	GRCh37
NC_000007.12:g.72494791C>T	NCBI36
NG_027679.1:g.84761G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339594.9:c.4123G>A MANE Select	ENSP00000342434.4:p.Asp1375Asn
ENST00000339594.8:c.4123G>A	ENSP00000342434.4:p.Asp1375Asn
ENST00000404251.1:c.4123G>A	ENSP00000385442.1:p.Asp1375Asn
NM_032408.3:c.4123G>A	NP_115784.1:p.Asp1375Asn
XM_017012773.2:c.4123G>A	XP_016868262.1:p.Asp1375Asn
NM_032408.4:c.4123G>A MANE Select	NP_115784.1:p.Asp1375Asn
NM_001370402.1:c.4123G>A	NP_001357331.1:p.Asp1375Asn