Canonical Allele Identifier: CA2630739994
Gene: HBA1 HGNC NCBI

Linked Data

gnomAD v4: 16-177204-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177204C>G , CM000678.2:g.177204C>G GRCh38
NC_000016.9:g.227203C>G , CM000678.1:g.227203C>G GRCh37
NC_000016.8:g.167203C>G NCBI36
NG_000006.1:g.38067C>G
NG_059186.1:g.5554C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.300+71C>G MANE Select ENSP00000322421.5:n.300+71C>G
ENST00000397797.1:c.204+71C>G ENSP00000380899.1:n.204+71C>G
ENST00000472694.1:n.436+71C>G
ENST00000487791.1:n.340C>G
NM_000558.4:c.300+71C>G NP_000549.1:n.300+71C>G
NM_000558.5:c.300+71C>G MANE Select NP_000549.1:n.300+71C>G
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