Canonical Allele Identifier: CA125823
Gene: HBA1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.176786G>C
GRCh37 chr16:g.226785G>C
Revel Score:
ENST00000320868 (MANE Select) 0.646
ClinVar Allele:
30820
ClinVar RCV:
RCV000017108
ClinVar Variation:
15781
dbSNP:
33939620
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176786G>C , CM000678.2:g.176786G>C GRCh38
NC_000016.9:g.226785G>C , CM000678.1:g.226785G>C GRCh37
NC_000016.8:g.166785G>C NCBI36
NG_000006.1:g.37649G>C
NG_059186.1:g.5136G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.70G>C MANE Select ENSP00000322421.5:p.Glu24Gln
ENST00000397797.1:c.-2+24G>C ENSP00000380899.1:n.-2+24G>C
ENST00000472694.1:n.89G>C
ENST00000487791.1:n.39G>C
NM_000558.4:c.70G>C NP_000549.1:p.Glu24Gln
NM_000558.5:c.70G>C MANE Select NP_000549.1:p.Glu24Gln
Search 100 bp 5'
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