Canonical Allele Identifier: CA492994397
Gene: HBA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.227314C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177315C>G , CM000678.2:g.177315C>G GRCh38
NC_000016.9:g.227314C>G , CM000678.1:g.227314C>G GRCh37
NC_000016.8:g.167314C>G NCBI36
NG_000006.1:g.38178C>G
NG_059186.1:g.5665C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.333C>G MANE Select ENSP00000322421.5:p.Ala111=
ENST00000397797.1:c.237C>G ENSP00000380899.1:p.Ala79=
ENST00000472694.1:n.469C>G
NM_000558.4:c.333C>G NP_000549.1:p.Ala111=
NM_000558.5:c.333C>G MANE Select NP_000549.1:p.Ala111=