Canonical Allele Identifier: CA367788123
Gene: BAZ1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73442731G>T , CM000669.2:g.73442731G>T GRCh38
NC_000007.13:g.72857061G>T , CM000669.1:g.72857061G>T GRCh37
NC_000007.12:g.72494997G>T NCBI36
NG_027679.1:g.84555C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000339594.9:c.4088C>A MANE Select ENSP00000342434.4:p.Pro1363His
ENST00000339594.8:c.4088C>A ENSP00000342434.4:p.Pro1363His
ENST00000404251.1:c.4088C>A ENSP00000385442.1:p.Pro1363His
NM_032408.3:c.4088C>A NP_115784.1:p.Pro1363His
XM_017012773.2:c.4088C>A XP_016868262.1:p.Pro1363His
NM_032408.4:c.4088C>A MANE Select NP_115784.1:p.Pro1363His
NM_001370402.1:c.4088C>A NP_001357331.1:p.Pro1363His