Canonical Allele Identifier: CA2200883024
Gene: HBA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176999G= , CM000678.2:g.176999G= GRCh38
NC_000016.9:g.226998G= , CM000678.1:g.226998G= GRCh37
NC_000016.8:g.166998G= NCBI36
NG_000006.1:g.37862G=
NG_059186.1:g.5349G=

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.166G= MANE Select ENSP00000322421.5:p.Val56=
ENST00000397797.1:c.70G= ENSP00000380899.1:p.Val24=
ENST00000472694.1:n.302G=
ENST00000487791.1:n.135G=
NM_000558.4:c.166G= NP_000549.1:p.Val56=
NM_000558.5:c.166G= MANE Select NP_000549.1:p.Val56=