Canonical Allele Identifier: CA125847
Gene: HBA1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.177331G>A
GRCh37 chr16:g.227330G>A
Revel Score:
ENST00000320868 (MANE Select) 0.673
ENST00000397797 0.673
gnomAD v2:
16:227330 G / A
gnomAD v3:
16:177331 G / A
gnomAD v4:
chr16-177331-G-A
Joint Max Group AF 0.000058 (MID)
Exomes Max Group AF 0.00006094 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177331G>A , CM000678.2:g.177331G>A GRCh38
NC_000016.9:g.227330G>A , CM000678.1:g.227330G>A GRCh37
NC_000016.8:g.167330G>A NCBI36
NG_000006.1:g.38194G>A
NG_059186.1:g.5681G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.349G>A MANE Select ENSP00000322421.5:p.Glu117Lys
ENST00000397797.1:c.253G>A ENSP00000380899.1:p.Glu85Lys
ENST00000472694.1:n.485G>A
NM_000558.4:c.349G>A NP_000549.1:p.Glu117Lys
NM_000558.5:c.349G>A MANE Select NP_000549.1:p.Glu117Lys
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