Canonical Allele Identifier: CA492994631

Gene: HBA1

Linked Data

• gnomAD v4: 16-177082-C-T
• MyVariant Identifiers: chr16:g.227081C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.177082C>T , CM000678.2:g.177082C>T	GRCh38
NC_000016.9:g.227081C>T , CM000678.1:g.227081C>T	GRCh37
NC_000016.8:g.167081C>T	NCBI36
NG_000006.1:g.37945C>T
NG_059186.1:g.5432C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000320868.9:c.249C>T MANE Select	ENSP00000322421.5:p.Ala83=
ENST00000397797.1:c.153C>T	ENSP00000380899.1:p.Ala51=
ENST00000472694.1:n.385C>T
ENST00000487791.1:n.218C>T
NM_000558.4:c.249C>T	NP_000549.1:p.Ala83=
NM_000558.5:c.249C>T MANE Select	NP_000549.1:p.Ala83=