Canonical Allele Identifier: CA2200882938
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs1902150762
gnomAD v4: 16-176881-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176881C>A , CM000678.2:g.176881C>A GRCh38
NC_000016.9:g.226880C>A , CM000678.1:g.226880C>A GRCh37
NC_000016.8:g.166880C>A NCBI36
NG_000006.1:g.37744C>A
NG_059186.1:g.5231C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.96-48C>A MANE Select ENSP00000322421.5:n.96-48C>A
ENST00000397797.1:c.-1-48C>A ENSP00000380899.1:n.-1-48C>A
ENST00000472694.1:n.184C>A
ENST00000487791.1:n.65-48C>A
NM_000558.4:c.96-48C>A NP_000549.1:n.96-48C>A
NM_000558.5:c.96-48C>A MANE Select NP_000549.1:n.96-48C>A
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