Canonical Allele Identifier: CA276416488
Gene: HBA1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.176778A>C
GRCh37 chr16:g.226777A>C
Revel Score:
ENST00000320868 (MANE Select) 0.717
gnomAD v3:
16:176778 A / C
gnomAD v4:
chr16-176778-A-C
Joint Max Group AF 0.00000454 (AFR)
Genomes Max Group AF 0.00000813 (AFR)
ClinVar RCV:
RCV001801152
ClinVar Variation:
1330135
dbSNP:
33943087
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176778A>C , CM000678.2:g.176778A>C GRCh38
NC_000016.9:g.226777A>C , CM000678.1:g.226777A>C GRCh37
NC_000016.8:g.166777A>C NCBI36
NG_000006.1:g.37641A>C
NG_059186.1:g.5128A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.62A>C MANE Select ENSP00000322421.5:p.His21Pro
ENST00000397797.1:c.-2+16A>C ENSP00000380899.1:n.-2+16A>C
ENST00000472694.1:n.81A>C
ENST00000487791.1:n.31A>C
NM_000558.4:c.62A>C NP_000549.1:p.His21Pro
NM_000558.5:c.62A>C MANE Select NP_000549.1:p.His21Pro
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