Canonical Allele Identifier: CA748485350

Gene: BACH1

Linked Data

• dbSNP Id: rs1283804970
• MyVariant Identifiers: chr21:g.30713566A>G (hg19) ; chr21:g.29341245A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.29341245A>G , CM000683.2:g.29341245A>G	GRCh38
NC_000021.8:g.30713566A>G , CM000683.1:g.30713566A>G	GRCh37
NC_000021.7:g.29635437A>G	NCBI36
NG_029658.1:g.47347A>G
NG_029658.2:g.47347A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000286800.8:c.1777-1154A>G MANE Select	ENSP00000286800.3:n.1777-1154A>G
ENST00000286800.7:c.1777-1154A>G	ENSP00000286800.3:n.1777-1154A>G
ENST00000399921.5:c.1777-1154A>G	ENSP00000382805.1:n.1777-1154A>G
ENST00000422809.5:c.472+11552A>G
ENST00000468059.1:c.325+11552A>G
NM_001186.3:c.1777-1154A>G	NP_001177.1:n.1777-1154A>G
NM_206866.2:c.1777-1154A>G	NP_996749.1:n.1777-1154A>G
NR_027655.2:n.1956-10389A>G
NM_001186.4:c.1777-1154A>G MANE Select	NP_001177.1:n.1777-1154A>G
NM_206866.3:c.1777-1154A>G	NP_996749.1:n.1777-1154A>G
NR_027655.3:n.1956-10389A>G