Canonical Allele Identifier: CA393995981
Gene: HBA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177364A>G , CM000678.2:g.177364A>G GRCh38
NC_000016.9:g.227363A>G , CM000678.1:g.227363A>G GRCh37
NC_000016.8:g.167363A>G NCBI36
NG_000006.1:g.38227A>G
NG_059186.1:g.5714A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.382A>G MANE Select ENSP00000322421.5:p.Lys128Glu
ENST00000397797.1:c.286A>G ENSP00000380899.1:p.Lys96Glu
ENST00000472694.1:n.518A>G
NM_000558.4:c.382A>G NP_000549.1:p.Lys128Glu
NM_000558.5:c.382A>G MANE Select NP_000549.1:p.Lys128Glu