Canonical Allele Identifier: CA2200883340
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs1902174006
gnomAD v4: 16-177431-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177431T>G , CM000678.2:g.177431T>G GRCh38
NC_000016.9:g.227430T>G , CM000678.1:g.227430T>G GRCh37
NC_000016.8:g.167430T>G NCBI36
NG_000006.1:g.38294T>G
NG_059186.1:g.5781T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.*20T>G MANE Select ENSP00000322421.5:n.*20T>G
ENST00000397797.1:c.*20T>G ENSP00000380899.1:n.*20T>G
ENST00000472694.1:n.585T>G
NM_000558.4:c.*20T>G NP_000549.1:n.*20T>G
NM_000558.5:c.*20T>G MANE Select NP_000549.1:n.*20T>G