Canonical Allele Identifier: CA1717046855
Gene: BAZ1B HGNC NCBI

Linked Data

dbSNP Id: rs1787629348
gnomAD v4: 7-73441851-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73441851G>C , CM000669.2:g.73441851G>C GRCh38
NC_000007.13:g.72856181G>C , CM000669.1:g.72856181G>C GRCh37
NC_000007.12:g.72494117G>C NCBI36
NG_027679.1:g.85435C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000339594.9:c.*16-158C>G MANE Select ENSP00000342434.4:n.*16-158C>G
ENST00000339594.8:c.*16-158C>G ENSP00000342434.4:n.*16-158C>G
ENST00000404251.1:c.*345C>G ENSP00000385442.1:n.*345C>G
NM_032408.3:c.*16-158C>G NP_115784.1:n.*16-158C>G
XM_017012773.2:c.*345C>G XP_016868262.1:n.*345C>G
NM_032408.4:c.*16-158C>G MANE Select NP_115784.1:n.*16-158C>G
NM_001370402.1:c.*345C>G NP_001357331.1:n.*345C>G