Canonical Allele Identifier: CA393994911
Gene: HBA1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.176732G>A
GRCh37 chr16:g.226731G>A
Revel Score:
ENST00000320868 (MANE Select) 0.523
gnomAD v2:
16:226731 G / A
gnomAD v4:
chr16-176732-G-A
Joint Max Group AF 0.00000754 (EAS)
Exomes Max Group AF 0.00000854 (EAS)
ClinVar RCV:
RCV004997985
ClinVar Variation:
3572193
dbSNP:
34751764
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176732G>A , CM000678.2:g.176732G>A GRCh38
NC_000016.9:g.226731G>A , CM000678.1:g.226731G>A GRCh37
NC_000016.8:g.166731G>A NCBI36
NG_000006.1:g.37595G>A
NG_059186.1:g.5082G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.16G>A MANE Select ENSP00000322421.5:p.Ala6Thr
ENST00000397797.1:c.-32G>A ENSP00000380899.1:n.-32G>A
ENST00000472694.1:n.35G>A
NM_000558.4:c.16G>A NP_000549.1:p.Ala6Thr
NM_000558.5:c.16G>A MANE Select NP_000549.1:p.Ala6Thr
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