Canonical Allele Identifier: CA2838146824

Gene: HBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.177188G>A , CM000678.2:g.177188G>A	GRCh38
NC_000016.9:g.227187G>A , CM000678.1:g.227187G>A	GRCh37
NC_000016.8:g.167187G>A	NCBI36
NG_000006.1:g.38051G>A
NG_059186.1:g.5538G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320868.9:c.300+55G>A MANE Select	ENSP00000322421.5:n.300+55G>A
ENST00000397797.1:c.204+55G>A	ENSP00000380899.1:n.204+55G>A
ENST00000472694.1:n.436+55G>A
ENST00000487791.1:n.324G>A
NM_000558.4:c.300+55G>A	NP_000549.1:n.300+55G>A
NM_000558.5:c.300+55G>A MANE Select	NP_000549.1:n.300+55G>A