Canonical Allele Identifier: CA455852468
Gene: BAZ1B HGNC NCBI

Linked Data

dbSNP Id: rs1563359776
gnomAD v2: 7-72857056-T-G
gnomAD v4: 7-73442726-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73442726T>G , CM000669.2:g.73442726T>G GRCh38
NC_000007.13:g.72857056T>G , CM000669.1:g.72857056T>G GRCh37
NC_000007.12:g.72494992T>G NCBI36
NG_027679.1:g.84560A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000339594.9:c.4093A>C MANE Select ENSP00000342434.4:p.Arg1365=
ENST00000339594.8:c.4093A>C ENSP00000342434.4:p.Arg1365=
ENST00000404251.1:c.4093A>C ENSP00000385442.1:p.Arg1365=
NM_032408.3:c.4093A>C NP_115784.1:p.Arg1365=
XM_017012773.2:c.4093A>C XP_016868262.1:p.Arg1365=
NM_032408.4:c.4093A>C MANE Select NP_115784.1:p.Arg1365=
NM_001370402.1:c.4093A>C NP_001357331.1:p.Arg1365=