Canonical Allele Identifier: CA125915
Gene: HBA1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.177323T>A
GRCh37 chr16:g.227322T>A
GRCh37 chr16:g.227322_227323delinsAC
Revel Score:
ENST00000320868 (MANE Select) 0.376
ENST00000397797 0.376
gnomAD v2:
16:227322 T / A
gnomAD v3:
16:177323 T / A
gnomAD v4:
chr16-177323-T-A
Joint Max Group AF 0.00004292 (AMR)
Exomes Max Group AF 0.00004368 (AMR)
ClinVar RCV:
RCV000017173
RCV001811181
ClinVar Variation:
15829
dbSNP:
35654345
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177323T>A , CM000678.2:g.177323T>A GRCh38
NC_000016.9:g.227322T>A , CM000678.1:g.227322T>A GRCh37
NC_000016.8:g.167322T>A NCBI36
NG_000006.1:g.38186T>A
NG_059186.1:g.5673T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.341T>A MANE Select ENSP00000322421.5:p.Leu114His
ENST00000397797.1:c.245T>A ENSP00000380899.1:p.Leu82His
ENST00000472694.1:n.477T>A
NM_000558.4:c.341T>A NP_000549.1:p.Leu114His
NM_000558.5:c.341T>A MANE Select NP_000549.1:p.Leu114His
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