Canonical Allele Identifier: CA2200883094
Gene: HBA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177093T= , CM000678.2:g.177093T= GRCh38
NC_000016.9:g.227092T= , CM000678.1:g.227092T= GRCh37
NC_000016.8:g.167092T= NCBI36
NG_000006.1:g.37956T=
NG_059186.1:g.5443T=

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.260T= MANE Select ENSP00000322421.5:p.Leu87=
ENST00000397797.1:c.164T= ENSP00000380899.1:p.Leu55=
ENST00000472694.1:n.396T=
ENST00000487791.1:n.229T=
NM_000558.4:c.260T= NP_000549.1:p.Leu87=
NM_000558.5:c.260T= MANE Select NP_000549.1:p.Leu87=