Canonical Allele Identifier: CA125765
Gene: HBA1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.177018A>C
GRCh37 chr16:g.227017A>C
Revel Score:
ENST00000320868 (MANE Select) 0.867
ENST00000397797 0.867
ClinVar RCV:
RCV000017058
ClinVar Variation:
15749
dbSNP:
41381645
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177018A>C , CM000678.2:g.177018A>C GRCh38
NC_000016.9:g.227017A>C , CM000678.1:g.227017A>C GRCh37
NC_000016.8:g.167017A>C NCBI36
NG_000006.1:g.37881A>C
NG_059186.1:g.5368A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.185A>C MANE Select ENSP00000322421.5:p.Lys62Thr
ENST00000397797.1:c.89A>C ENSP00000380899.1:p.Lys30Thr
ENST00000472694.1:n.321A>C
ENST00000487791.1:n.154A>C
NM_000558.4:c.185A>C NP_000549.1:p.Lys62Thr
NM_000558.5:c.185A>C MANE Select NP_000549.1:p.Lys62Thr
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