Canonical Allele Identifier: CA393995679
Gene: HBA1 HGNC NCBI

Linked Data

gnomAD v4: 16-177131-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177131A>T , CM000678.2:g.177131A>T GRCh38
NC_000016.9:g.227130A>T , CM000678.1:g.227130A>T GRCh37
NC_000016.8:g.167130A>T NCBI36
NG_000006.1:g.37994A>T
NG_059186.1:g.5481A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.298A>T MANE Select ENSP00000322421.5:p.Lys100Ter
ENST00000397797.1:c.202A>T ENSP00000380899.1:p.Lys68Ter
ENST00000472694.1:n.434A>T
ENST00000487791.1:n.267A>T
NM_000558.4:c.298A>T NP_000549.1:p.Lys100Ter
NM_000558.5:c.298A>T MANE Select NP_000549.1:p.Lys100Ter