Canonical Allele Identifier: CA125741
Gene: HBA1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.177081C>A
GRCh37 chr16:g.227080C>A
Revel Score:
ENST00000320868 (MANE Select) 0.579
ENST00000397797 0.579
ClinVar RCV:
RCV000017036
ClinVar Variation:
15735
dbSNP:
34879587
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177081C>A , CM000678.2:g.177081C>A GRCh38
NC_000016.9:g.227080C>A , CM000678.1:g.227080C>A GRCh37
NC_000016.8:g.167080C>A NCBI36
NG_000006.1:g.37944C>A
NG_059186.1:g.5431C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.248C>A MANE Select ENSP00000322421.5:p.Ala83Asp
ENST00000397797.1:c.152C>A ENSP00000380899.1:p.Ala51Asp
ENST00000472694.1:n.384C>A
ENST00000487791.1:n.217C>A
NM_000558.4:c.248C>A NP_000549.1:p.Ala83Asp
NM_000558.5:c.248C>A MANE Select NP_000549.1:p.Ala83Asp
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