Canonical Allele Identifier: CA125670
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 15697
ClinVar RCV Id: RCV000016989
dbSNP Id: rs33938574

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176750A>G , CM000678.2:g.176750A>G GRCh38
NC_000016.9:g.226749A>G , CM000678.1:g.226749A>G GRCh37
NC_000016.8:g.166749A>G NCBI36
NG_000006.1:g.37613A>G
NG_059186.1:g.5100A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.34A>G MANE Select ENSP00000322421.5:p.Lys12Glu
ENST00000397797.1:c.-14A>G ENSP00000380899.1:n.-14A>G
ENST00000472694.1:n.53A>G
ENST00000487791.1:n.3A>G
NM_000558.4:c.34A>G NP_000549.1:p.Lys12Glu
NM_000558.5:c.34A>G MANE Select NP_000549.1:p.Lys12Glu