Canonical Allele Identifier: CA276416862

Gene: HBA1

Linked Data

• dbSNP Id: rs3180281
• MyVariant Identifiers: chr16:g.227047C>G (hg19) ; chr16:g.177048C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.177048C>G , CM000678.2:g.177048C>G	GRCh38
NC_000016.9:g.227047C>G , CM000678.1:g.227047C>G	GRCh37
NC_000016.8:g.167047C>G	NCBI36
NG_000006.1:g.37911C>G
NG_059186.1:g.5398C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320868.9:c.215C>G MANE Select	ENSP00000322421.5:p.Ala72Gly
ENST00000397797.1:c.119C>G	ENSP00000380899.1:p.Ala40Gly
ENST00000472694.1:n.351C>G
ENST00000487791.1:n.184C>G
NM_000558.4:c.215C>G	NP_000549.1:p.Ala72Gly
NM_000558.5:c.215C>G MANE Select	NP_000549.1:p.Ala72Gly