Canonical Allele Identifier: CA319860711

Gene: BACH1

Linked Data

• dbSNP Id: rs549179137
• gnomAD v3: 21-29341189-G-A
• gnomAD v4: 21-29341189-G-A
• MyVariant Identifiers: chr21:g.30713510G>A (hg19) ; chr21:g.29341189G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.29341189G>A , CM000683.2:g.29341189G>A	GRCh38
NC_000021.8:g.30713510G>A , CM000683.1:g.30713510G>A	GRCh37
NC_000021.7:g.29635381G>A	NCBI36
NG_029658.1:g.47291G>A
NG_029658.2:g.47291G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000286800.8:c.1777-1210G>A MANE Select	ENSP00000286800.3:n.1777-1210G>A
ENST00000286800.7:c.1777-1210G>A	ENSP00000286800.3:n.1777-1210G>A
ENST00000399921.5:c.1777-1210G>A	ENSP00000382805.1:n.1777-1210G>A
ENST00000422809.5:c.472+11496G>A
ENST00000468059.1:c.325+11496G>A
NM_001186.3:c.1777-1210G>A	NP_001177.1:n.1777-1210G>A
NM_206866.2:c.1777-1210G>A	NP_996749.1:n.1777-1210G>A
NR_027655.2:n.1956-10445G>A
NM_001186.4:c.1777-1210G>A MANE Select	NP_001177.1:n.1777-1210G>A
NM_206866.3:c.1777-1210G>A	NP_996749.1:n.1777-1210G>A
NR_027655.3:n.1956-10445G>A