Canonical Allele Identifier: CA393995868
Gene: HBA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.227320C>G (hg19) chr16:g.177321C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177321C>G , CM000678.2:g.177321C>G GRCh38
NC_000016.9:g.227320C>G , CM000678.1:g.227320C>G GRCh37
NC_000016.8:g.167320C>G NCBI36
NG_000006.1:g.38184C>G
NG_059186.1:g.5671C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.339C>G MANE Select ENSP00000322421.5:p.His113Gln
ENST00000397797.1:c.243C>G ENSP00000380899.1:p.His81Gln
ENST00000472694.1:n.475C>G
NM_000558.4:c.339C>G NP_000549.1:p.His113Gln
NM_000558.5:c.339C>G MANE Select NP_000549.1:p.His113Gln
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