Canonical Allele Identifier: CA2575852743
Gene: HBA1 HGNC NCBI

Linked Data

gnomAD v4: 16-177420-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177420C>G , CM000678.2:g.177420C>G GRCh38
NC_000016.9:g.227419C>G , CM000678.1:g.227419C>G GRCh37
NC_000016.8:g.167419C>G NCBI36
NG_000006.1:g.38283C>G
NG_059186.1:g.5770C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.*9C>G MANE Select ENSP00000322421.5:n.*9C>G
ENST00000397797.1:c.*9C>G ENSP00000380899.1:n.*9C>G
ENST00000472694.1:n.574C>G
NM_000558.4:c.*9C>G NP_000549.1:n.*9C>G
NM_000558.5:c.*9C>G MANE Select NP_000549.1:n.*9C>G
Search 100 bp 5'
Search 100 bp 3'