Canonical Allele Identifier: CA2630739392
Gene: HBA1 HGNC NCBI

Linked Data

gnomAD v4: 16-176876-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176876A>C , CM000678.2:g.176876A>C GRCh38
NC_000016.9:g.226875A>C , CM000678.1:g.226875A>C GRCh37
NC_000016.8:g.166875A>C NCBI36
NG_000006.1:g.37739A>C
NG_059186.1:g.5226A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.96-53A>C MANE Select ENSP00000322421.5:n.96-53A>C
ENST00000397797.1:c.-1-53A>C ENSP00000380899.1:n.-1-53A>C
ENST00000472694.1:n.179A>C
ENST00000487791.1:n.65-53A>C
NM_000558.4:c.96-53A>C NP_000549.1:n.96-53A>C
NM_000558.5:c.96-53A>C MANE Select NP_000549.1:n.96-53A>C