Canonical Allele Identifier: CA125733
Gene: HBA1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.177089G>A
GRCh37 chr16:g.227088G>A
Revel Score:
ENST00000320868 (MANE Select) 0.693
ENST00000397797 0.693
gnomAD v4:
chr16-177089-G-A
Joint Max Group AF 0.00000513 (NFE)
Exomes Max Group AF 0.00000545 (NFE)
ClinVar RCV:
RCV000017026
RCV001800307
ClinVar Variation:
15731
dbSNP:
33915947
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177089G>A , CM000678.2:g.177089G>A GRCh38
NC_000016.9:g.227088G>A , CM000678.1:g.227088G>A GRCh37
NC_000016.8:g.167088G>A NCBI36
NG_000006.1:g.37952G>A
NG_059186.1:g.5439G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.256G>A MANE Select ENSP00000322421.5:p.Asp86Asn
ENST00000397797.1:c.160G>A ENSP00000380899.1:p.Asp54Asn
ENST00000472694.1:n.392G>A
ENST00000487791.1:n.225G>A
NM_000558.4:c.256G>A NP_000549.1:p.Asp86Asn
NM_000558.5:c.256G>A MANE Select NP_000549.1:p.Asp86Asn
Search 100 bp 5'
Search 100 bp 3'