Canonical Allele Identifier: CA492994421

Gene: HBA1

Linked Data

• MyVariant Identifiers: chr16:g.227338C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.177339C>G , CM000678.2:g.177339C>G	GRCh38
NC_000016.9:g.227338C>G , CM000678.1:g.227338C>G	GRCh37
NC_000016.8:g.167338C>G	NCBI36
NG_000006.1:g.38202C>G
NG_059186.1:g.5689C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320868.9:c.357C>G MANE Select	ENSP00000322421.5:p.Thr119=
ENST00000397797.1:c.261C>G	ENSP00000380899.1:p.Thr87=
ENST00000472694.1:n.493C>G
NM_000558.4:c.357C>G	NP_000549.1:p.Thr119=
NM_000558.5:c.357C>G MANE Select	NP_000549.1:p.Thr119=