Canonical Allele Identifier: CA7770286
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs28928881
ExAC: 16:227351 G / A
gnomAD v2: 16-227351-G-A
gnomAD v3: 16-177352-G-A
gnomAD v4: 16-177352-G-A
MyVariant Identifiers: chr16:g.227351G>A (hg19) chr16:g.177352G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177352G>A , CM000678.2:g.177352G>A GRCh38
NC_000016.9:g.227351G>A , CM000678.1:g.227351G>A GRCh37
NC_000016.8:g.167351G>A NCBI36
NG_000006.1:g.38215G>A
NG_059186.1:g.5702G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.370G>A MANE Select ENSP00000322421.5:p.Ala124Thr
ENST00000397797.1:c.274G>A ENSP00000380899.1:p.Ala92Thr
ENST00000472694.1:n.506G>A
NM_000558.4:c.370G>A NP_000549.1:p.Ala124Thr
NM_000558.5:c.370G>A MANE Select NP_000549.1:p.Ala124Thr
Search 100 bp 5'
Search 100 bp 3'