Canonical Allele Identifier: CA492787338
Gene: HBA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.227409A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177410A>G , CM000678.2:g.177410A>G GRCh38
NC_000016.9:g.227409A>G , CM000678.1:g.227409A>G GRCh37
NC_000016.8:g.167409A>G NCBI36
NG_000006.1:g.38273A>G
NG_059186.1:g.5760A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.428A>G MANE Select ENSP00000322421.5:p.Ter143=
ENST00000397797.1:c.332A>G ENSP00000380899.1:p.Ter111=
ENST00000472694.1:n.564A>G
NM_000558.4:c.428A>G NP_000549.1:p.Ter143=
NM_000558.5:c.428A>G MANE Select NP_000549.1:p.Ter143=