Canonical Allele Identifier: CA393995024
Gene: HBA1 HGNC NCBI

Linked Data

gnomAD v4: 16-176811-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176811G>T , CM000678.2:g.176811G>T GRCh38
NC_000016.9:g.226810G>T , CM000678.1:g.226810G>T GRCh37
NC_000016.8:g.166810G>T NCBI36
NG_000006.1:g.37674G>T
NG_059186.1:g.5161G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.95G>T MANE Select ENSP00000322421.5:p.Arg32Met
ENST00000397797.1:c.-2+49G>T ENSP00000380899.1:n.-2+49G>T
ENST00000472694.1:n.114G>T
ENST00000487791.1:n.64G>T
NM_000558.4:c.95G>T NP_000549.1:p.Arg32Met
NM_000558.5:c.95G>T MANE Select NP_000549.1:p.Arg32Met