Canonical Allele Identifier: CA2630736419
Gene: HBA1 HGNC NCBI

Linked Data

gnomAD v4: 16-177451-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177451T>C , CM000678.2:g.177451T>C GRCh38
NC_000016.9:g.227450T>C , CM000678.1:g.227450T>C GRCh37
NC_000016.8:g.167450T>C NCBI36
NG_000006.1:g.38314T>C
NG_059186.1:g.5801T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.*40T>C MANE Select ENSP00000322421.5:n.*40T>C
ENST00000397797.1:c.*40T>C ENSP00000380899.1:n.*40T>C
ENST00000472694.1:n.605T>C
NM_000558.4:c.*40T>C NP_000549.1:n.*40T>C
NM_000558.5:c.*40T>C MANE Select NP_000549.1:n.*40T>C
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Search 100 bp 3'