Canonical Allele Identifier: CA319860714

Gene: BACH1

Linked Data

• dbSNP Id: rs190136175
• gnomAD v2: 21-30713549-A-C
• gnomAD v3: 21-29341228-A-C
• gnomAD v4: 21-29341228-A-C
• MyVariant Identifiers: chr21:g.30713549A>C (hg19) ; chr21:g.29341228A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.29341228A>C , CM000683.2:g.29341228A>C	GRCh38
NC_000021.8:g.30713549A>C , CM000683.1:g.30713549A>C	GRCh37
NC_000021.7:g.29635420A>C	NCBI36
NG_029658.1:g.47330A>C
NG_029658.2:g.47330A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000286800.8:c.1777-1171A>C MANE Select	ENSP00000286800.3:n.1777-1171A>C
ENST00000286800.7:c.1777-1171A>C	ENSP00000286800.3:n.1777-1171A>C
ENST00000399921.5:c.1777-1171A>C	ENSP00000382805.1:n.1777-1171A>C
ENST00000422809.5:c.472+11535A>C
ENST00000468059.1:c.325+11535A>C
NM_001186.3:c.1777-1171A>C	NP_001177.1:n.1777-1171A>C
NM_206866.2:c.1777-1171A>C	NP_996749.1:n.1777-1171A>C
NR_027655.2:n.1956-10406A>C
NM_001186.4:c.1777-1171A>C MANE Select	NP_001177.1:n.1777-1171A>C
NM_206866.3:c.1777-1171A>C	NP_996749.1:n.1777-1171A>C
NR_027655.3:n.1956-10406A>C