Canonical Allele Identifier: CA2630739998
Gene: HBA1 HGNC NCBI

Linked Data

gnomAD v4: 16-177207-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177207G>C , CM000678.2:g.177207G>C GRCh38
NC_000016.9:g.227206G>C , CM000678.1:g.227206G>C GRCh37
NC_000016.8:g.167206G>C NCBI36
NG_000006.1:g.38070G>C
NG_059186.1:g.5557G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.300+74G>C MANE Select ENSP00000322421.5:n.300+74G>C
ENST00000397797.1:c.204+74G>C ENSP00000380899.1:n.204+74G>C
ENST00000472694.1:n.436+74G>C
ENST00000487791.1:n.343G>C
NM_000558.4:c.300+74G>C NP_000549.1:n.300+74G>C
NM_000558.5:c.300+74G>C MANE Select NP_000549.1:n.300+74G>C
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