Canonical Allele Identifier: CA492787337
Gene: HBA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.227407T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177408T>C , CM000678.2:g.177408T>C GRCh38
NC_000016.9:g.227407T>C , CM000678.1:g.227407T>C GRCh37
NC_000016.8:g.167407T>C NCBI36
NG_000006.1:g.38271T>C
NG_059186.1:g.5758T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.426T>C MANE Select ENSP00000322421.5:p.Arg142=
ENST00000397797.1:c.330T>C ENSP00000380899.1:p.Arg110=
ENST00000472694.1:n.562T>C
NM_000558.4:c.426T>C NP_000549.1:p.Arg142=
NM_000558.5:c.426T>C MANE Select NP_000549.1:p.Arg142=