Canonical Allele Identifier: CA276416970
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1679446
ClinVar RCV Id: RCV002227325
dbSNP Id: rs33996798
gnomAD v3: 16-177088-C-A
gnomAD v4: 16-177088-C-A
MyVariant Identifiers: chr16:g.227087C>A (hg19) chr16:g.177088C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177088C>A , CM000678.2:g.177088C>A GRCh38
NC_000016.9:g.227087C>A , CM000678.1:g.227087C>A GRCh37
NC_000016.8:g.167087C>A NCBI36
NG_000006.1:g.37951C>A
NG_059186.1:g.5438C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.255C>A MANE Select ENSP00000322421.5:p.Ser85Arg
ENST00000397797.1:c.159C>A ENSP00000380899.1:p.Ser53Arg
ENST00000472694.1:n.391C>A
ENST00000487791.1:n.224C>A
NM_000558.4:c.255C>A NP_000549.1:p.Ser85Arg
NM_000558.5:c.255C>A MANE Select NP_000549.1:p.Ser85Arg
Search 100 bp 5'
Search 100 bp 3'