Canonical Allele Identifier: CA492786870
Gene: HBA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.226763T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176764T>C , CM000678.2:g.176764T>C GRCh38
NC_000016.9:g.226763T>C , CM000678.1:g.226763T>C GRCh37
NC_000016.8:g.166763T>C NCBI36
NG_000006.1:g.37627T>C
NG_059186.1:g.5114T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.48T>C MANE Select ENSP00000322421.5:p.Gly16=
ENST00000397797.1:c.-2+2T>C ENSP00000380899.1:n.-2+2T>C
ENST00000472694.1:n.67T>C
ENST00000487791.1:n.17T>C
NM_000558.4:c.48T>C NP_000549.1:p.Gly16=
NM_000558.5:c.48T>C MANE Select NP_000549.1:p.Gly16=