Canonical Allele Identifier: CA393995329

Gene: HBA1

Linked Data

• MyVariant Identifiers: chr16:g.227041C>A (hg19) ; chr16:g.177042C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.177042C>A , CM000678.2:g.177042C>A	GRCh38
NC_000016.9:g.227041C>A , CM000678.1:g.227041C>A	GRCh37
NC_000016.8:g.167041C>A	NCBI36
NG_000006.1:g.37905C>A
NG_059186.1:g.5392C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320868.9:c.209C>A MANE Select	ENSP00000322421.5:p.Ala70Asp
ENST00000397797.1:c.113C>A	ENSP00000380899.1:p.Ala38Asp
ENST00000472694.1:n.345C>A
ENST00000487791.1:n.178C>A
NM_000558.4:c.209C>A	NP_000549.1:p.Ala70Asp
NM_000558.5:c.209C>A MANE Select	NP_000549.1:p.Ala70Asp