Canonical Allele Identifier: CA2630740000
Gene: HBA1 HGNC NCBI

Linked Data

gnomAD v4: 16-177220-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177220T>C , CM000678.2:g.177220T>C GRCh38
NC_000016.9:g.227219T>C , CM000678.1:g.227219T>C GRCh37
NC_000016.8:g.167219T>C NCBI36
NG_000006.1:g.38083T>C
NG_059186.1:g.5570T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.301-63T>C MANE Select ENSP00000322421.5:n.301-63T>C
ENST00000397797.1:c.205-63T>C ENSP00000380899.1:n.205-63T>C
ENST00000472694.1:n.437-63T>C
ENST00000487791.1:n.356T>C
NM_000558.4:c.301-63T>C NP_000549.1:n.301-63T>C
NM_000558.5:c.301-63T>C MANE Select NP_000549.1:n.301-63T>C