Canonical Allele Identifier: CA125680
Gene: HBA1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.177063T>C
GRCh37 chr16:g.227062T>C
Revel Score:
ENST00000320868 (MANE Select) 0.574
ENST00000397797 0.574
gnomAD v4:
chr16-177063-T-C
Joint Max Group AF 3e-7 (NFE)
Exomes Max Group AF 3.1e-7 (NFE)
ClinVar RCV:
RCV000016994
ClinVar Variation:
15702
dbSNP:
33969953
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177063T>C , CM000678.2:g.177063T>C GRCh38
NC_000016.9:g.227062T>C , CM000678.1:g.227062T>C GRCh37
NC_000016.8:g.167062T>C NCBI36
NG_000006.1:g.37926T>C
NG_059186.1:g.5413T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.230T>C MANE Select ENSP00000322421.5:p.Met77Thr
ENST00000397797.1:c.134T>C ENSP00000380899.1:p.Met45Thr
ENST00000472694.1:n.366T>C
ENST00000487791.1:n.199T>C
NM_000558.4:c.230T>C NP_000549.1:p.Met77Thr
NM_000558.5:c.230T>C MANE Select NP_000549.1:p.Met77Thr
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