Canonical Allele Identifier: CA276417106
Gene: HBA1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.177291C>A
GRCh37 chr16:g.227290C>A
Revel Score:
ENST00000320868 (MANE Select) 0.740
ENST00000397797 0.740
ClinVar RCV:
RCV001811838
ClinVar Variation:
1330740
dbSNP:
34098449
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177291C>A , CM000678.2:g.177291C>A GRCh38
NC_000016.9:g.227290C>A , CM000678.1:g.227290C>A GRCh37
NC_000016.8:g.167290C>A NCBI36
NG_000006.1:g.38154C>A
NG_059186.1:g.5641C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.309C>A MANE Select ENSP00000322421.5:p.Ser103Arg
ENST00000397797.1:c.213C>A ENSP00000380899.1:p.Ser71Arg
ENST00000472694.1:n.445C>A
NM_000558.4:c.309C>A NP_000549.1:p.Ser103Arg
NM_000558.5:c.309C>A MANE Select NP_000549.1:p.Ser103Arg
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