Canonical Allele Identifier: CA125857
Gene: HBA1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.177346G>A
GRCh37 chr16:g.227345G>A
Revel Score:
ENST00000320868 (MANE Select) 0.501
ENST00000397797 0.501
gnomAD v2:
16:227345 G / A
gnomAD v3:
16:177346 G / A
gnomAD v4:
chr16-177346-G-A
Joint Max Group AF 0.00010401 (EAS)
Genomes Max Group AF 0.0000684 (EAS)
Exomes Max Group AF 0.00008203 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177346G>A , CM000678.2:g.177346G>A GRCh38
NC_000016.9:g.227345G>A , CM000678.1:g.227345G>A GRCh37
NC_000016.8:g.167345G>A NCBI36
NG_000006.1:g.38209G>A
NG_059186.1:g.5696G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.364G>A MANE Select ENSP00000322421.5:p.Val122Met
ENST00000397797.1:c.268G>A ENSP00000380899.1:p.Val90Met
ENST00000472694.1:n.500G>A
NM_000558.4:c.364G>A NP_000549.1:p.Val122Met
NM_000558.5:c.364G>A MANE Select NP_000549.1:p.Val122Met
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