Canonical Allele Identifier: CA7770296

Gene: HBA1

Linked Data

• dbSNP Id: rs376827361
• ExAC: 16:227429 A / G
• gnomAD v2: 16-227429-A-G
• gnomAD v3: 16-177430-A-G
• gnomAD v4: 16-177430-A-G
• MyVariant Identifiers: chr16:g.227429A>G (hg19) ; chr16:g.177430A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.177430A>G , CM000678.2:g.177430A>G	GRCh38
NC_000016.9:g.227429A>G , CM000678.1:g.227429A>G	GRCh37
NC_000016.8:g.167429A>G	NCBI36
NG_000006.1:g.38293A>G
NG_059186.1:g.5780A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320868.9:c.*19A>G MANE Select	ENSP00000322421.5:n.*19A>G
ENST00000397797.1:c.*19A>G	ENSP00000380899.1:n.*19A>G
ENST00000472694.1:n.584A>G
NM_000558.4:c.*19A>G	NP_000549.1:n.*19A>G
NM_000558.5:c.*19A>G MANE Select	NP_000549.1:n.*19A>G