Canonical Allele Identifier: CA125739
Gene: HBA1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.177026G>A
GRCh37 chr16:g.227025G>A
Revel Score:
ENST00000320868 (MANE Select) 0.295
ENST00000397797 0.295
gnomAD v2:
16:227025 G / A
gnomAD v3:
16:177026 G / A
gnomAD v4:
chr16-177026-G-A
Joint Max Group AF 3.2e-7 (NFE)
Exomes Max Group AF 3.5e-7 (NFE)
ClinVar RCV:
RCV000017034
RCV000017035
ClinVar Variation:
15734
dbSNP:
33984024
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177026G>A , CM000678.2:g.177026G>A GRCh38
NC_000016.9:g.227025G>A , CM000678.1:g.227025G>A GRCh37
NC_000016.8:g.167025G>A NCBI36
NG_000006.1:g.37889G>A
NG_059186.1:g.5376G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.193G>A MANE Select ENSP00000322421.5:p.Asp65Asn
ENST00000397797.1:c.97G>A ENSP00000380899.1:p.Asp33Asn
ENST00000472694.1:n.329G>A
ENST00000487791.1:n.162G>A
NM_000558.4:c.193G>A NP_000549.1:p.Asp65Asn
NM_000558.5:c.193G>A MANE Select NP_000549.1:p.Asp65Asn
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