Canonical Allele Identifier: CA160071530
Gene: BAZ1B HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.73441939G>A
GRCh37 chr7:g.72856269G>A
gnomAD v2:
7:72856269 G / A
gnomAD v3:
7:73441939 G / A
gnomAD v4:
chr7-73441939-G-A
Joint Max Group AF 0.11609073 (NFE)
Genomes Max Group AF 0.12022605 (NFE)
Exomes Max Group AF 0.1142619 (NFE)
dbSNP:
2240466
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73441939G>A , CM000669.2:g.73441939G>A GRCh38
NC_000007.13:g.72856269G>A , CM000669.1:g.72856269G>A GRCh37
NC_000007.12:g.72494205G>A NCBI36
NG_027679.1:g.85347C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000339594.9:c.*15+242C>T MANE Select ENSP00000342434.4:n.*15+242C>T
ENST00000339594.8:c.*15+242C>T ENSP00000342434.4:n.*15+242C>T
ENST00000404251.1:c.*257C>T ENSP00000385442.1:n.*257C>T
NM_032408.3:c.*15+242C>T NP_115784.1:n.*15+242C>T
XM_017012773.2:c.*257C>T XP_016868262.1:n.*257C>T
NM_032408.4:c.*15+242C>T MANE Select NP_115784.1:n.*15+242C>T
NM_001370402.1:c.*257C>T NP_001357331.1:n.*257C>T
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