Canonical Allele Identifier: CA2200883123
Gene: HBA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177132A= , CM000678.2:g.177132A= GRCh38
NC_000016.9:g.227131A= , CM000678.1:g.227131A= GRCh37
NC_000016.8:g.167131A= NCBI36
NG_000006.1:g.37995A=
NG_059186.1:g.5482A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.299A= MANE Select ENSP00000322421.5:p.Lys100=
ENST00000397797.1:c.203A= ENSP00000380899.1:p.Lys68=
ENST00000472694.1:n.435A=
ENST00000487791.1:n.268A=
NM_000558.4:c.299A= NP_000549.1:p.Lys100=
NM_000558.5:c.299A= MANE Select NP_000549.1:p.Lys100=