Canonical Allele Identifier: CA492994375
Gene: HBA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.227287A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177288A>T , CM000678.2:g.177288A>T GRCh38
NC_000016.9:g.227287A>T , CM000678.1:g.227287A>T GRCh37
NC_000016.8:g.167287A>T NCBI36
NG_000006.1:g.38151A>T
NG_059186.1:g.5638A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.306A>T MANE Select ENSP00000322421.5:p.Leu102=
ENST00000397797.1:c.210A>T ENSP00000380899.1:p.Leu70=
ENST00000472694.1:n.442A>T
NM_000558.4:c.306A>T NP_000549.1:p.Leu102=
NM_000558.5:c.306A>T MANE Select NP_000549.1:p.Leu102=