Canonical Allele Identifier: CA125777
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 15756
ClinVar RCV Id: RCV000017066
dbSNP Id: rs34608326

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176784G>A , CM000678.2:g.176784G>A GRCh38
NC_000016.9:g.226783G>A , CM000678.1:g.226783G>A GRCh37
NC_000016.8:g.166783G>A NCBI36
NG_000006.1:g.37647G>A
NG_059186.1:g.5134G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.68G>A MANE Select ENSP00000322421.5:p.Gly23Asp
ENST00000397797.1:c.-2+22G>A ENSP00000380899.1:n.-2+22G>A
ENST00000472694.1:n.87G>A
ENST00000487791.1:n.37G>A
NM_000558.4:c.68G>A NP_000549.1:p.Gly23Asp
NM_000558.5:c.68G>A MANE Select NP_000549.1:p.Gly23Asp