Canonical Allele Identifier: CA125821
Gene: HBA1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.177059G>A
GRCh37 chr16:g.227058G>A
Revel Score:
ENST00000320868 (MANE Select) 0.502
ENST00000397797 0.502
ClinVar RCV:
RCV000017107
ClinVar Variation:
15780
dbSNP:
33977363
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177059G>A , CM000678.2:g.177059G>A GRCh38
NC_000016.9:g.227058G>A , CM000678.1:g.227058G>A GRCh37
NC_000016.8:g.167058G>A NCBI36
NG_000006.1:g.37922G>A
NG_059186.1:g.5409G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.226G>A MANE Select ENSP00000322421.5:p.Asp76Asn
ENST00000397797.1:c.130G>A ENSP00000380899.1:p.Asp44Asn
ENST00000472694.1:n.362G>A
ENST00000487791.1:n.195G>A
NM_000558.4:c.226G>A NP_000549.1:p.Asp76Asn
NM_000558.5:c.226G>A MANE Select NP_000549.1:p.Asp76Asn
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