Canonical Allele Identifier: CA492994405

Gene: HBA1

Linked Data

• MyVariant Identifiers: chr16:g.227323C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.177324C>T , CM000678.2:g.177324C>T	GRCh38
NC_000016.9:g.227323C>T , CM000678.1:g.227323C>T	GRCh37
NC_000016.8:g.167323C>T	NCBI36
NG_000006.1:g.38187C>T
NG_059186.1:g.5674C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000320868.9:c.342C>T MANE Select	ENSP00000322421.5:p.Leu114=
ENST00000397797.1:c.246C>T	ENSP00000380899.1:p.Leu82=
ENST00000472694.1:n.478C>T
NM_000558.4:c.342C>T	NP_000549.1:p.Leu114=
NM_000558.5:c.342C>T MANE Select	NP_000549.1:p.Leu114=