Canonical Allele Identifier: CA160078380
Gene: BAZ1B HGNC NCBI

Linked Data

dbSNP Id: rs714052
gnomAD v2: 7-72864869-A-G
gnomAD v3: 7-73450539-A-G
gnomAD v4: 7-73450539-A-G
MyVariant Identifiers: chr7:g.72864869A>G (hg19) chr7:g.73450539A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73450539A>G , CM000669.2:g.73450539A>G GRCh38
NC_000007.13:g.72864869A>G , CM000669.1:g.72864869A>G GRCh37
NC_000007.12:g.72502805A>G NCBI36
NG_027679.1:g.76747T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000339594.9:c.3580+308T>C MANE Select ENSP00000342434.4:n.3580+308T>C
ENST00000339594.8:c.3580+308T>C ENSP00000342434.4:n.3580+308T>C
ENST00000404251.1:c.3580+308T>C ENSP00000385442.1:n.3580+308T>C
NM_032408.3:c.3580+308T>C NP_115784.1:n.3580+308T>C
XM_017012773.2:c.3580+308T>C XP_016868262.1:n.3580+308T>C
NM_032408.4:c.3580+308T>C MANE Select NP_115784.1:n.3580+308T>C
NM_001370402.1:c.3580+308T>C NP_001357331.1:n.3580+308T>C
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