Canonical Allele Identifier: CA393995677
Gene: HBA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177131A>C , CM000678.2:g.177131A>C GRCh38
NC_000016.9:g.227130A>C , CM000678.1:g.227130A>C GRCh37
NC_000016.8:g.167130A>C NCBI36
NG_000006.1:g.37994A>C
NG_059186.1:g.5481A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.298A>C MANE Select ENSP00000322421.5:p.Lys100Gln
ENST00000397797.1:c.202A>C ENSP00000380899.1:p.Lys68Gln
ENST00000472694.1:n.434A>C
ENST00000487791.1:n.267A>C
NM_000558.4:c.298A>C NP_000549.1:p.Lys100Gln
NM_000558.5:c.298A>C MANE Select NP_000549.1:p.Lys100Gln