Canonical Allele Identifier: CA276417034
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2263512
ClinVar RCV Id: RCV002797954
dbSNP Id: rs281864483
MyVariant Identifiers: chr16:g.227128T>A (hg19) chr16:g.177129T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177129T>A , CM000678.2:g.177129T>A GRCh38
NC_000016.9:g.227128T>A , CM000678.1:g.227128T>A GRCh37
NC_000016.8:g.167128T>A NCBI36
NG_000006.1:g.37992T>A
NG_059186.1:g.5479T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.296T>A MANE Select ENSP00000322421.5:p.Phe99Tyr
ENST00000397797.1:c.200T>A ENSP00000380899.1:p.Phe67Tyr
ENST00000472694.1:n.432T>A
ENST00000487791.1:n.265T>A
NM_000558.4:c.296T>A NP_000549.1:p.Phe99Tyr
NM_000558.5:c.296T>A MANE Select NP_000549.1:p.Phe99Tyr
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