Canonical Allele Identifier: CA7770244
Gene: HBA1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.176928G>A
GRCh37 chr16:g.226927G>A
gnomAD v2:
16:226927 G / A
gnomAD v3:
16:176928 G / A
gnomAD v4:
chr16-176928-G-A
Joint Max Group AF 0.00088686 (SAS)
Genomes Max Group AF 0.0010181 (SAS)
Exomes Max Group AF 0.00083039 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176928G>A , CM000678.2:g.176928G>A GRCh38
NC_000016.9:g.226927G>A , CM000678.1:g.226927G>A GRCh37
NC_000016.8:g.166927G>A NCBI36
NG_000006.1:g.37791G>A
NG_059186.1:g.5278G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.96-1G>A MANE Select ENSP00000322421.5:n.96-1G>A
ENST00000397797.1:c.-1-1G>A ENSP00000380899.1:n.-1-1G>A
ENST00000472694.1:n.231G>A
ENST00000487791.1:n.65-1G>A
NM_000558.4:c.96-1G>A NP_000549.1:n.96-1G>A
NM_000558.5:c.96-1G>A MANE Select NP_000549.1:n.96-1G>A
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