Canonical Allele Identifier: CA2200882952
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs1902151129
gnomAD v4: 16-176894-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176894C>G , CM000678.2:g.176894C>G GRCh38
NC_000016.9:g.226893C>G , CM000678.1:g.226893C>G GRCh37
NC_000016.8:g.166893C>G NCBI36
NG_000006.1:g.37757C>G
NG_059186.1:g.5244C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.96-35C>G MANE Select ENSP00000322421.5:n.96-35C>G
ENST00000397797.1:c.-1-35C>G ENSP00000380899.1:n.-1-35C>G
ENST00000472694.1:n.197C>G
ENST00000487791.1:n.65-35C>G
NM_000558.4:c.96-35C>G NP_000549.1:n.96-35C>G
NM_000558.5:c.96-35C>G MANE Select NP_000549.1:n.96-35C>G
Search 100 bp 5'
Search 100 bp 3'