Canonical Allele Identifier: CA276416595
Gene: HBA1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.176816G>A
GRCh37 chr16:g.226815G>A
gnomAD v2:
16:226815 G / A
gnomAD v3:
16:176816 G / A
gnomAD v4:
chr16-176816-G-A
Joint Max Group AF 0.00011148 (AFR)
Genomes Max Group AF 0.00012151 (AFR)
Exomes Max Group AF 0.00004499 (AFR)
ClinVar RCV:
RCV001283985
ClinVar Variation:
993069
dbSNP:
63750918
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176816G>A , CM000678.2:g.176816G>A GRCh38
NC_000016.9:g.226815G>A , CM000678.1:g.226815G>A GRCh37
NC_000016.8:g.166815G>A NCBI36
NG_000006.1:g.37679G>A
NG_059186.1:g.5166G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.95+5G>A MANE Select ENSP00000322421.5:n.95+5G>A
ENST00000397797.1:c.-2+54G>A ENSP00000380899.1:n.-2+54G>A
ENST00000472694.1:n.119G>A
ENST00000487791.1:n.64+5G>A
NM_000558.4:c.95+5G>A NP_000549.1:n.95+5G>A
NM_000558.5:c.95+5G>A MANE Select NP_000549.1:n.95+5G>A
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