Canonical Allele Identifier: CA492994655
Gene: HBA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.227093G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177094G>C , CM000678.2:g.177094G>C GRCh38
NC_000016.9:g.227093G>C , CM000678.1:g.227093G>C GRCh37
NC_000016.8:g.167093G>C NCBI36
NG_000006.1:g.37957G>C
NG_059186.1:g.5444G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.261G>C MANE Select ENSP00000322421.5:p.Leu87=
ENST00000397797.1:c.165G>C ENSP00000380899.1:p.Leu55=
ENST00000472694.1:n.397G>C
ENST00000487791.1:n.230G>C
NM_000558.4:c.261G>C NP_000549.1:p.Leu87=
NM_000558.5:c.261G>C MANE Select NP_000549.1:p.Leu87=