Canonical Allele Identifier: CA126023
Gene: HBA1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.177295T>A
GRCh37 chr16:g.227294T>A
Revel Score:
ENST00000320868 (MANE Select) 0.665
ENST00000397797 0.665
ClinVar RCV:
RCV000017236
ClinVar Variation:
15890
dbSNP:
35059618
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177295T>A , CM000678.2:g.177295T>A GRCh38
NC_000016.9:g.227294T>A , CM000678.1:g.227294T>A GRCh37
NC_000016.8:g.167294T>A NCBI36
NG_000006.1:g.38158T>A
NG_059186.1:g.5645T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.313T>A MANE Select ENSP00000322421.5:p.Cys105Ser
ENST00000397797.1:c.217T>A ENSP00000380899.1:p.Cys73Ser
ENST00000472694.1:n.449T>A
NM_000558.4:c.313T>A NP_000549.1:p.Cys105Ser
NM_000558.5:c.313T>A MANE Select NP_000549.1:p.Cys105Ser
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