Canonical Allele Identifier: CA492994498
Gene: HBA1 HGNC NCBI

Linked Data

gnomAD v4: 16-176989-C-A
MyVariant Identifiers: chr16:g.226988C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176989C>A , CM000678.2:g.176989C>A GRCh38
NC_000016.9:g.226988C>A , CM000678.1:g.226988C>A GRCh37
NC_000016.8:g.166988C>A NCBI36
NG_000006.1:g.37852C>A
NG_059186.1:g.5339C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.156C>A MANE Select ENSP00000322421.5:p.Gly52=
ENST00000397797.1:c.60C>A ENSP00000380899.1:p.Gly20=
ENST00000472694.1:n.292C>A
ENST00000487791.1:n.125C>A
NM_000558.4:c.156C>A NP_000549.1:p.Gly52=
NM_000558.5:c.156C>A MANE Select NP_000549.1:p.Gly52=