Canonical Allele Identifier: CA2630736390
Gene: HBA1 HGNC NCBI

Linked Data

gnomAD v4: 16-177431-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177431T>C , CM000678.2:g.177431T>C GRCh38
NC_000016.9:g.227430T>C , CM000678.1:g.227430T>C GRCh37
NC_000016.8:g.167430T>C NCBI36
NG_000006.1:g.38294T>C
NG_059186.1:g.5781T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.*20T>C MANE Select ENSP00000322421.5:n.*20T>C
ENST00000397797.1:c.*20T>C ENSP00000380899.1:n.*20T>C
ENST00000472694.1:n.585T>C
NM_000558.4:c.*20T>C NP_000549.1:n.*20T>C
NM_000558.5:c.*20T>C MANE Select NP_000549.1:n.*20T>C
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