Canonical Allele Identifier: CA319860712

Gene: BACH1

Linked Data

• dbSNP Id: rs887197693
• gnomAD v2: 21-30713537-C-T
• gnomAD v3: 21-29341216-C-T
• gnomAD v4: 21-29341216-C-T
• MyVariant Identifiers: chr21:g.30713537C>T (hg19) ; chr21:g.29341216C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.29341216C>T , CM000683.2:g.29341216C>T	GRCh38
NC_000021.8:g.30713537C>T , CM000683.1:g.30713537C>T	GRCh37
NC_000021.7:g.29635408C>T	NCBI36
NG_029658.1:g.47318C>T
NG_029658.2:g.47318C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000286800.8:c.1777-1183C>T MANE Select	ENSP00000286800.3:n.1777-1183C>T
ENST00000286800.7:c.1777-1183C>T	ENSP00000286800.3:n.1777-1183C>T
ENST00000399921.5:c.1777-1183C>T	ENSP00000382805.1:n.1777-1183C>T
ENST00000422809.5:c.472+11523C>T
ENST00000468059.1:c.325+11523C>T
NM_001186.3:c.1777-1183C>T	NP_001177.1:n.1777-1183C>T
NM_206866.2:c.1777-1183C>T	NP_996749.1:n.1777-1183C>T
NR_027655.2:n.1956-10418C>T
NM_001186.4:c.1777-1183C>T MANE Select	NP_001177.1:n.1777-1183C>T
NM_206866.3:c.1777-1183C>T	NP_996749.1:n.1777-1183C>T
NR_027655.3:n.1956-10418C>T