Canonical Allele Identifier: CA492994626
Gene: HBA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.227078C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177079C>T , CM000678.2:g.177079C>T GRCh38
NC_000016.9:g.227078C>T , CM000678.1:g.227078C>T GRCh37
NC_000016.8:g.167078C>T NCBI36
NG_000006.1:g.37942C>T
NG_059186.1:g.5429C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.246C>T MANE Select ENSP00000322421.5:p.Ser82=
ENST00000397797.1:c.150C>T ENSP00000380899.1:p.Ser50=
ENST00000472694.1:n.382C>T
ENST00000487791.1:n.215C>T
NM_000558.4:c.246C>T NP_000549.1:p.Ser82=
NM_000558.5:c.246C>T MANE Select NP_000549.1:p.Ser82=