Canonical Allele Identifier: CA4287254
Gene: BAZ1B HGNC NCBI

Linked Data

dbSNP Id: rs782424974
ExAC: 7:72856859 G / A
gnomAD v2: 7-72856859-G-A
gnomAD v3: 7-73442529-G-A
gnomAD v4: 7-73442529-G-A
MyVariant Identifiers: chr7:g.72856859G>A (hg19) chr7:g.73442529G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73442529G>A , CM000669.2:g.73442529G>A GRCh38
NC_000007.13:g.72856859G>A , CM000669.1:g.72856859G>A GRCh37
NC_000007.12:g.72494795G>A NCBI36
NG_027679.1:g.84757C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000339594.9:c.4119C>T MANE Select ENSP00000342434.4:p.Ala1373=
ENST00000339594.8:c.4119C>T ENSP00000342434.4:p.Ala1373=
ENST00000404251.1:c.4119C>T ENSP00000385442.1:p.Ala1373=
NM_032408.3:c.4119C>T NP_115784.1:p.Ala1373=
XM_017012773.2:c.4119C>T XP_016868262.1:p.Ala1373=
NM_032408.4:c.4119C>T MANE Select NP_115784.1:p.Ala1373=
NM_001370402.1:c.4119C>T NP_001357331.1:p.Ala1373=
Search 100 bp 5'
Search 100 bp 3'