Canonical Allele Identifier: CA842015531

Gene: BAZ1B

Linked Data

• dbSNP Id: rs1430447936
• gnomAD v3: 7-73441857-C-T
• gnomAD v4: 7-73441857-C-T
• MyVariant Identifiers: chr7:g.73441857C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73441857C>T , CM000669.2:g.73441857C>T	GRCh38
NC_000007.13:g.72856187C>T , CM000669.1:g.72856187C>T	GRCh37
NC_000007.12:g.72494123C>T	NCBI36
NG_027679.1:g.85429G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000339594.9:c.*16-164G>A MANE Select	ENSP00000342434.4:n.*16-164G>A
ENST00000339594.8:c.*16-164G>A	ENSP00000342434.4:n.*16-164G>A
ENST00000404251.1:c.*339G>A	ENSP00000385442.1:n.*339G>A
NM_032408.3:c.*16-164G>A	NP_115784.1:n.*16-164G>A
XM_017012773.2:c.*339G>A	XP_016868262.1:n.*339G>A
NM_032408.4:c.*16-164G>A MANE Select	NP_115784.1:n.*16-164G>A
NM_001370402.1:c.*339G>A	NP_001357331.1:n.*339G>A