Canonical Allele Identifier: CA393995037
Gene: HBA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176930A>G , CM000678.2:g.176930A>G GRCh38
NC_000016.9:g.226929A>G , CM000678.1:g.226929A>G GRCh37
NC_000016.8:g.166929A>G NCBI36
NG_000006.1:g.37793A>G
NG_059186.1:g.5280A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.97A>G MANE Select ENSP00000322421.5:p.Met33Val
ENST00000397797.1:c.1A>G ENSP00000380899.1:p.Met1Val
ENST00000472694.1:n.233A>G
ENST00000487791.1:n.66A>G
NM_000558.4:c.97A>G NP_000549.1:p.Met33Val
NM_000558.5:c.97A>G MANE Select NP_000549.1:p.Met33Val