Canonical Allele Identifier: CA276416807
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 619840
ClinVar RCV Id: RCV000759775
dbSNP Id: rs281864895
gnomAD v2: 16-227010-G-A
gnomAD v3: 16-177011-G-A
gnomAD v4: 16-177011-G-A
MyVariant Identifiers: chr16:g.227010G>A (hg19) chr16:g.177011G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177011G>A , CM000678.2:g.177011G>A GRCh38
NC_000016.9:g.227010G>A , CM000678.1:g.227010G>A GRCh37
NC_000016.8:g.167010G>A NCBI36
NG_000006.1:g.37874G>A
NG_059186.1:g.5361G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.178G>A MANE Select ENSP00000322421.5:p.Gly60Ser
ENST00000397797.1:c.82G>A ENSP00000380899.1:p.Gly28Ser
ENST00000472694.1:n.314G>A
ENST00000487791.1:n.147G>A
NM_000558.4:c.178G>A NP_000549.1:p.Gly60Ser
NM_000558.5:c.178G>A MANE Select NP_000549.1:p.Gly60Ser
Search 100 bp 5'
Search 100 bp 3'