Canonical Allele Identifier: CA7770290
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 439101
ClinVar RCV Id: RCV001834633 RCV003103796 RCV003979906
dbSNP Id: rs149264789
ExAC: 16:227377 T / C
gnomAD v2: 16-227377-T-C
gnomAD v3: 16-177378-T-C
gnomAD v4: 16-177378-T-C
MyVariant Identifiers: chr16:g.227377T>C (hg19) chr16:g.177378T>C (hg38)
PubMed: PMID:22638758
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177378T>C , CM000678.2:g.177378T>C GRCh38
NC_000016.9:g.227377T>C , CM000678.1:g.227377T>C GRCh37
NC_000016.8:g.167377T>C NCBI36
NG_000006.1:g.38241T>C
NG_059186.1:g.5728T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.396T>C MANE Select ENSP00000322421.5:p.Ser132=
ENST00000397797.1:c.300T>C ENSP00000380899.1:p.Ser100=
ENST00000472694.1:n.532T>C
NM_000558.4:c.396T>C NP_000549.1:p.Ser132=
NM_000558.5:c.396T>C MANE Select NP_000549.1:p.Ser132=
Search 100 bp 5'
Search 100 bp 3'