Canonical Allele Identifier: CA14869137
Gene: BACH1 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.29342277G>A
GRCh37 chr21:g.30714598G>A
gnomAD v2:
21:30714598 G / A
gnomAD v3:
21:29342277 G / A
gnomAD v4:
chr21-29342277-G-A
Joint Max Group AF 0.44275968 (AFR)
Genomes Max Group AF 0.44087902 (AFR)
Exomes Max Group AF 0.44134477 (AFR)
dbSNP:
411697
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.29342277G>A , CM000683.2:g.29342277G>A GRCh38
NC_000021.8:g.30714598G>A , CM000683.1:g.30714598G>A GRCh37
NC_000021.7:g.29636469G>A NCBI36
NG_029658.1:g.48379G>A
NG_029658.2:g.48379G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286800.8:c.1777-122G>A MANE Select ENSP00000286800.3:n.1777-122G>A
ENST00000286800.7:c.1777-122G>A ENSP00000286800.3:n.1777-122G>A
ENST00000399921.5:c.1777-122G>A ENSP00000382805.1:n.1777-122G>A
ENST00000422809.5:c.472+12584G>A
ENST00000468059.1:c.325+12584G>A
NM_001186.3:c.1777-122G>A NP_001177.1:n.1777-122G>A
NM_206866.2:c.1777-122G>A NP_996749.1:n.1777-122G>A
NR_027655.2:n.1956-9357G>A
NM_001186.4:c.1777-122G>A MANE Select NP_001177.1:n.1777-122G>A
NM_206866.3:c.1777-122G>A NP_996749.1:n.1777-122G>A
NR_027655.3:n.1956-9357G>A
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