Canonical Allele Identifier: CA2580661106

Gene: BACH1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.29345416T>A , CM000683.2:g.29345416T>A	GRCh38
NC_000021.8:g.30717737T>A , CM000683.1:g.30717737T>A	GRCh37
NC_000021.7:g.29639608T>A	NCBI36
NG_029658.1:g.51518T>A
NG_029658.2:g.51518T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001186.4:c.*2583T>A MANE Select	NP_001177.1:n.*2583T>A
ENST00000286800.8:c.*2583T>A MANE Select	ENSP00000286800.3:n.*2583T>A
NM_001186.3:c.*2583T>A	NP_001177.1:n.*2583T>A
NM_206866.2:c.*2583T>A	NP_996749.1:n.*2583T>A
NM_206866.3:c.*2583T>A	NP_996749.1:n.*2583T>A
NR_027655.2:n.1956-6218T>A
NR_027655.3:n.1956-6218T>A
ENST00000286800.7:c.*2583T>A	ENSP00000286800.3:n.*2583T>A
ENST00000399921.5:c.*2583T>A	ENSP00000382805.1:n.*2583T>A
ENST00000422809.5:c.472+15723T>A
ENST00000468059.1:c.325+15723T>A