Canonical Allele Identifier: CA160072178
Gene: BAZ1B HGNC NCBI

Linked Data

dbSNP Id: rs535596302
gnomAD v2: 7-72857060-G-A
gnomAD v3: 7-73442730-G-A
gnomAD v4: 7-73442730-G-A
MyVariant Identifiers: chr7:g.72857060G>A (hg19) chr7:g.73442730G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73442730G>A , CM000669.2:g.73442730G>A GRCh38
NC_000007.13:g.72857060G>A , CM000669.1:g.72857060G>A GRCh37
NC_000007.12:g.72494996G>A NCBI36
NG_027679.1:g.84556C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000339594.9:c.4089C>T MANE Select ENSP00000342434.4:p.Pro1363=
ENST00000339594.8:c.4089C>T ENSP00000342434.4:p.Pro1363=
ENST00000404251.1:c.4089C>T ENSP00000385442.1:p.Pro1363=
NM_032408.3:c.4089C>T NP_115784.1:p.Pro1363=
XM_017012773.2:c.4089C>T XP_016868262.1:p.Pro1363=
NM_032408.4:c.4089C>T MANE Select NP_115784.1:p.Pro1363=
NM_001370402.1:c.4089C>T NP_001357331.1:p.Pro1363=
Search 100 bp 5'
Search 100 bp 3'