Canonical Allele Identifier: CA393995912
Gene: HBA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177337A>C , CM000678.2:g.177337A>C GRCh38
NC_000016.9:g.227336A>C , CM000678.1:g.227336A>C GRCh37
NC_000016.8:g.167336A>C NCBI36
NG_000006.1:g.38200A>C
NG_059186.1:g.5687A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.355A>C MANE Select ENSP00000322421.5:p.Thr119Pro
ENST00000397797.1:c.259A>C ENSP00000380899.1:p.Thr87Pro
ENST00000472694.1:n.491A>C
NM_000558.4:c.355A>C NP_000549.1:p.Thr119Pro
NM_000558.5:c.355A>C MANE Select NP_000549.1:p.Thr119Pro