Canonical Allele Identifier: CA276416971

Gene: HBA1

Linked Data

• dbSNP Id: rs33996798
• MyVariant Identifiers: chr16:g.227087C>G (hg19) ; chr16:g.177088C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.177088C>G , CM000678.2:g.177088C>G	GRCh38
NC_000016.9:g.227087C>G , CM000678.1:g.227087C>G	GRCh37
NC_000016.8:g.167087C>G	NCBI36
NG_000006.1:g.37951C>G
NG_059186.1:g.5438C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000320868.9:c.255C>G MANE Select	ENSP00000322421.5:p.Ser85Arg
ENST00000397797.1:c.159C>G	ENSP00000380899.1:p.Ser53Arg
ENST00000472694.1:n.391C>G
ENST00000487791.1:n.224C>G
NM_000558.4:c.255C>G	NP_000549.1:p.Ser85Arg
NM_000558.5:c.255C>G MANE Select	NP_000549.1:p.Ser85Arg