Canonical Allele Identifier: CA2200883397
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs1902176762
gnomAD v4: 16-177515-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177515G>A , CM000678.2:g.177515G>A GRCh38
NC_000016.9:g.227514G>A , CM000678.1:g.227514G>A GRCh37
NC_000016.8:g.167514G>A NCBI36
NG_000006.1:g.38378G>A
NG_059186.1:g.5865G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.*104G>A MANE Select ENSP00000322421.5:n.*104G>A
ENST00000397797.1:c.*104G>A ENSP00000380899.1:n.*104G>A
ENST00000472694.1:n.669G>A
NM_000558.4:c.*104G>A NP_000549.1:n.*104G>A
NM_000558.5:c.*104G>A MANE Select NP_000549.1:n.*104G>A
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