Canonical Allele Identifier: CA393995667
Gene: HBA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177129T>G , CM000678.2:g.177129T>G GRCh38
NC_000016.9:g.227128T>G , CM000678.1:g.227128T>G GRCh37
NC_000016.8:g.167128T>G NCBI36
NG_000006.1:g.37992T>G
NG_059186.1:g.5479T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.296T>G MANE Select ENSP00000322421.5:p.Phe99Cys
ENST00000397797.1:c.200T>G ENSP00000380899.1:p.Phe67Cys
ENST00000472694.1:n.432T>G
ENST00000487791.1:n.265T>G
NM_000558.4:c.296T>G NP_000549.1:p.Phe99Cys
NM_000558.5:c.296T>G MANE Select NP_000549.1:p.Phe99Cys