Canonical Allele Identifier: CA393995131
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 993349
ClinVar RCV Id: RCV001812287 RCV001830080
dbSNP Id: rs1318437795
gnomAD v3: 16-176983-C-A
gnomAD v4: 16-176983-C-A
MyVariant Identifiers: chr16:g.226982C>A (hg19) chr16:g.176983C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176983C>A , CM000678.2:g.176983C>A GRCh38
NC_000016.9:g.226982C>A , CM000678.1:g.226982C>A GRCh37
NC_000016.8:g.166982C>A NCBI36
NG_000006.1:g.37846C>A
NG_059186.1:g.5333C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.150C>A MANE Select ENSP00000322421.5:p.Ser50Arg
ENST00000397797.1:c.54C>A ENSP00000380899.1:p.Ser18Arg
ENST00000472694.1:n.286C>A
ENST00000487791.1:n.119C>A
NM_000558.4:c.150C>A NP_000549.1:p.Ser50Arg
NM_000558.5:c.150C>A MANE Select NP_000549.1:p.Ser50Arg
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