Canonical Allele Identifier: CA2630739349
Gene: HBA1 HGNC NCBI

Linked Data

gnomAD v4: 16-176860-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176860C>A , CM000678.2:g.176860C>A GRCh38
NC_000016.9:g.226859C>A , CM000678.1:g.226859C>A GRCh37
NC_000016.8:g.166859C>A NCBI36
NG_000006.1:g.37723C>A
NG_059186.1:g.5210C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.95+49C>A MANE Select ENSP00000322421.5:n.95+49C>A
ENST00000397797.1:c.-1-69C>A ENSP00000380899.1:n.-1-69C>A
ENST00000472694.1:n.163C>A
ENST00000487791.1:n.64+49C>A
NM_000558.4:c.95+49C>A NP_000549.1:n.95+49C>A
NM_000558.5:c.95+49C>A MANE Select NP_000549.1:n.95+49C>A
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