Canonical Allele Identifier: CA125815
Gene: HBA1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.176789T>C
GRCh37 chr16:g.226788T>C
Revel Score:
ENST00000320868 (MANE Select) 0.483
gnomAD v2:
16:226788 T / C
gnomAD v4:
chr16-176789-T-C
Joint Max Group AF 6.9e-7 (NFE)
Exomes Max Group AF 7.3e-7 (NFE)
ClinVar RCV:
RCV000017097
ClinVar Variation:
15777
dbSNP:
34743106
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176789T>C , CM000678.2:g.176789T>C GRCh38
NC_000016.9:g.226788T>C , CM000678.1:g.226788T>C GRCh37
NC_000016.8:g.166788T>C NCBI36
NG_000006.1:g.37652T>C
NG_059186.1:g.5139T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.73T>C MANE Select ENSP00000322421.5:p.Tyr25His
ENST00000397797.1:c.-2+27T>C ENSP00000380899.1:n.-2+27T>C
ENST00000472694.1:n.92T>C
ENST00000487791.1:n.42T>C
NM_000558.4:c.73T>C NP_000549.1:p.Tyr25His
NM_000558.5:c.73T>C MANE Select NP_000549.1:p.Tyr25His
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