Canonical Allele Identifier: CA2805501962
Gene: HBA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177522A>C , CM000678.2:g.177522A>C GRCh38
NC_000016.9:g.227521A>C , CM000678.1:g.227521A>C GRCh37
NC_000016.8:g.167521A>C NCBI36
NG_000006.1:g.38385A>C
NG_059186.1:g.5872A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.*111A>C MANE Select ENSP00000322421.5:n.*111A>C
ENST00000397797.1:c.*111A>C ENSP00000380899.1:n.*111A>C
NM_000558.4:c.*111A>C NP_000549.1:n.*111A>C
NM_000558.5:c.*111A>C MANE Select NP_000549.1:n.*111A>C
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