Canonical Allele Identifier: CA492994615
Gene: HBA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.227073C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177074C>T , CM000678.2:g.177074C>T GRCh38
NC_000016.9:g.227073C>T , CM000678.1:g.227073C>T GRCh37
NC_000016.8:g.167073C>T NCBI36
NG_000006.1:g.37937C>T
NG_059186.1:g.5424C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.241C>T MANE Select ENSP00000322421.5:p.Leu81=
ENST00000397797.1:c.145C>T ENSP00000380899.1:p.Leu49=
ENST00000472694.1:n.377C>T
ENST00000487791.1:n.210C>T
NM_000558.4:c.241C>T NP_000549.1:p.Leu81=
NM_000558.5:c.241C>T MANE Select NP_000549.1:p.Leu81=