Canonical Allele Identifier: CA393995396

Gene: HBA1

Linked Data

• MyVariant Identifiers: chr16:g.227060C>A (hg19) ; chr16:g.177061C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.177061C>A , CM000678.2:g.177061C>A	GRCh38
NC_000016.9:g.227060C>A , CM000678.1:g.227060C>A	GRCh37
NC_000016.8:g.167060C>A	NCBI36
NG_000006.1:g.37924C>A
NG_059186.1:g.5411C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320868.9:c.228C>A MANE Select	ENSP00000322421.5:p.Asp76Glu
ENST00000397797.1:c.132C>A	ENSP00000380899.1:p.Asp44Glu
ENST00000472694.1:n.364C>A
ENST00000487791.1:n.197C>A
NM_000558.4:c.228C>A	NP_000549.1:p.Asp76Glu
NM_000558.5:c.228C>A MANE Select	NP_000549.1:p.Asp76Glu