Canonical Allele Identifier: CA125853
Gene: HBA1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.177331G>C
GRCh37 chr16:g.227330G>C
Revel Score:
ENST00000320868 (MANE Select) 0.558
ENST00000397797 0.558
ClinVar RCV:
RCV000017135
ClinVar Variation:
15796
dbSNP:
63749882
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177331G>C , CM000678.2:g.177331G>C GRCh38
NC_000016.9:g.227330G>C , CM000678.1:g.227330G>C GRCh37
NC_000016.8:g.167330G>C NCBI36
NG_000006.1:g.38194G>C
NG_059186.1:g.5681G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.349G>C MANE Select ENSP00000322421.5:p.Glu117Gln
ENST00000397797.1:c.253G>C ENSP00000380899.1:p.Glu85Gln
ENST00000472694.1:n.485G>C
NM_000558.4:c.349G>C NP_000549.1:p.Glu117Gln
NM_000558.5:c.349G>C MANE Select NP_000549.1:p.Glu117Gln
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