Canonical Allele Identifier: CA276416588

Gene: HBA1

Linked Data

• dbSNP Id: rs33946121
• MyVariant Identifiers: chr16:g.226807A>T (hg19) ; chr16:g.176808A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.176808A>T , CM000678.2:g.176808A>T	GRCh38
NC_000016.9:g.226807A>T , CM000678.1:g.226807A>T	GRCh37
NC_000016.8:g.166807A>T	NCBI36
NG_000006.1:g.37671A>T
NG_059186.1:g.5158A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320868.9:c.92A>T MANE Select	ENSP00000322421.5:p.Glu31Val
ENST00000397797.1:c.-2+46A>T	ENSP00000380899.1:n.-2+46A>T
ENST00000472694.1:n.111A>T
ENST00000487791.1:n.61A>T
NM_000558.4:c.92A>T	NP_000549.1:p.Glu31Val
NM_000558.5:c.92A>T MANE Select	NP_000549.1:p.Glu31Val