Canonical Allele Identifier: CA276416976
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs281864578
gnomAD v4: 16-177091-C-A
MyVariant Identifiers: chr16:g.227090C>A (hg19) chr16:g.177091C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177091C>A , CM000678.2:g.177091C>A GRCh38
NC_000016.9:g.227090C>A , CM000678.1:g.227090C>A GRCh37
NC_000016.8:g.167090C>A NCBI36
NG_000006.1:g.37954C>A
NG_059186.1:g.5441C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.258C>A MANE Select ENSP00000322421.5:p.Asp86Glu
ENST00000397797.1:c.162C>A ENSP00000380899.1:p.Asp54Glu
ENST00000472694.1:n.394C>A
ENST00000487791.1:n.227C>A
NM_000558.4:c.258C>A NP_000549.1:p.Asp86Glu
NM_000558.5:c.258C>A MANE Select NP_000549.1:p.Asp86Glu
Search 100 bp 5'
Search 100 bp 3'