Canonical Allele Identifier: CA393995645
Gene: HBA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177127C>G , CM000678.2:g.177127C>G GRCh38
NC_000016.9:g.227126C>G , CM000678.1:g.227126C>G GRCh37
NC_000016.8:g.167126C>G NCBI36
NG_000006.1:g.37990C>G
NG_059186.1:g.5477C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.294C>G MANE Select ENSP00000322421.5:p.Asn98Lys
ENST00000397797.1:c.198C>G ENSP00000380899.1:p.Asn66Lys
ENST00000472694.1:n.430C>G
ENST00000487791.1:n.263C>G
NM_000558.4:c.294C>G NP_000549.1:p.Asn98Lys
NM_000558.5:c.294C>G MANE Select NP_000549.1:p.Asn98Lys