Canonical Allele Identifier: CA718605763
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs1212782838
gnomAD v3: 16-176687-T-A
gnomAD v4: 16-176687-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176687T>A , CM000678.2:g.176687T>A GRCh38
NC_000016.9:g.226686T>A , CM000678.1:g.226686T>A GRCh37
NC_000016.8:g.166686T>A NCBI36
NG_000006.1:g.37550T>A
NG_059186.1:g.5037T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.-30T>A MANE Select ENSP00000322421.5:n.-30T>A
NM_000558.4:c.-30T>A NP_000549.1:n.-30T>A
NM_000558.5:c.-30T>A MANE Select NP_000549.1:n.-30T>A