Canonical Allele Identifier: CA125993
Gene: HBA1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.177119C>A
GRCh37 chr16:g.227118C>A
Revel Score:
ENST00000320868 (MANE Select) 0.914
ENST00000397797 0.914
ClinVar RCV:
RCV000017219
ClinVar Variation:
15873
dbSNP:
33984621
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177119C>A , CM000678.2:g.177119C>A GRCh38
NC_000016.9:g.227118C>A , CM000678.1:g.227118C>A GRCh37
NC_000016.8:g.167118C>A NCBI36
NG_000006.1:g.37982C>A
NG_059186.1:g.5469C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.286C>A MANE Select ENSP00000322421.5:p.Pro96Thr
ENST00000397797.1:c.190C>A ENSP00000380899.1:p.Pro64Thr
ENST00000472694.1:n.422C>A
ENST00000487791.1:n.255C>A
NM_000558.4:c.286C>A NP_000549.1:p.Pro96Thr
NM_000558.5:c.286C>A MANE Select NP_000549.1:p.Pro96Thr
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