Canonical Allele Identifier: CA276416582
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs33993166
gnomAD v2: 16-226806-G-C
MyVariant Identifiers: chr16:g.226806G>C (hg19) chr16:g.176807G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176807G>C , CM000678.2:g.176807G>C GRCh38
NC_000016.9:g.226806G>C , CM000678.1:g.226806G>C GRCh37
NC_000016.8:g.166806G>C NCBI36
NG_000006.1:g.37670G>C
NG_059186.1:g.5157G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.91G>C MANE Select ENSP00000322421.5:p.Glu31Gln
ENST00000397797.1:c.-2+45G>C ENSP00000380899.1:n.-2+45G>C
ENST00000472694.1:n.110G>C
ENST00000487791.1:n.60G>C
NM_000558.4:c.91G>C NP_000549.1:p.Glu31Gln
NM_000558.5:c.91G>C MANE Select NP_000549.1:p.Glu31Gln
Search 100 bp 5'
Search 100 bp 3'