Canonical Allele Identifier: CA393995650
Gene: HBA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177128T>C , CM000678.2:g.177128T>C GRCh38
NC_000016.9:g.227127T>C , CM000678.1:g.227127T>C GRCh37
NC_000016.8:g.167127T>C NCBI36
NG_000006.1:g.37991T>C
NG_059186.1:g.5478T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.295T>C MANE Select ENSP00000322421.5:p.Phe99Leu
ENST00000397797.1:c.199T>C ENSP00000380899.1:p.Phe67Leu
ENST00000472694.1:n.431T>C
ENST00000487791.1:n.264T>C
NM_000558.4:c.295T>C NP_000549.1:p.Phe99Leu
NM_000558.5:c.295T>C MANE Select NP_000549.1:p.Phe99Leu