Canonical Allele Identifier: CA393995511
Gene: HBA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177090A>G , CM000678.2:g.177090A>G GRCh38
NC_000016.9:g.227089A>G , CM000678.1:g.227089A>G GRCh37
NC_000016.8:g.167089A>G NCBI36
NG_000006.1:g.37953A>G
NG_059186.1:g.5440A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.257A>G MANE Select ENSP00000322421.5:p.Asp86Gly
ENST00000397797.1:c.161A>G ENSP00000380899.1:p.Asp54Gly
ENST00000472694.1:n.393A>G
ENST00000487791.1:n.226A>G
NM_000558.4:c.257A>G NP_000549.1:p.Asp86Gly
NM_000558.5:c.257A>G MANE Select NP_000549.1:p.Asp86Gly