Canonical Allele Identifier: CA511979365
Gene: BACH1 HGNC NCBI
MyVariant.info:
GRCh37 chr21:g.30714598G>C
gnomAD v2:
21:30714598 G / C
gnomAD v3:
21:29342277 G / C
gnomAD v4:
chr21-29342277-G-C
Joint Max Group AF 0.00000139 (NFE)
Exomes Max Group AF 0.00000131 (NFE)
dbSNP:
411697
JSON-LD

Genomic Alleles

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

Transcript Alleles

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