Canonical Allele Identifier: CA492994411
Gene: HBA1 HGNC NCBI

Linked Data

gnomAD v4: 16-176935-C-T
MyVariant Identifiers: chr16:g.226934C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176935C>T , CM000678.2:g.176935C>T GRCh38
NC_000016.9:g.226934C>T , CM000678.1:g.226934C>T GRCh37
NC_000016.8:g.166934C>T NCBI36
NG_000006.1:g.37798C>T
NG_059186.1:g.5285C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.102C>T MANE Select ENSP00000322421.5:p.Phe34=
ENST00000397797.1:c.6C>T ENSP00000380899.1:p.Phe2=
ENST00000472694.1:n.238C>T
ENST00000487791.1:n.71C>T
NM_000558.4:c.102C>T NP_000549.1:p.Phe34=
NM_000558.5:c.102C>T MANE Select NP_000549.1:p.Phe34=