Canonical Allele Identifier: CA125751
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 15741
ClinVar RCV Id: RCV000017046
dbSNP Id: rs35210126
MyVariant Identifiers: chr16:g.226765A>T (hg19) chr16:g.176766A>T (hg38)
PubMed: PMID:6526652
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176766A>T , CM000678.2:g.176766A>T GRCh38
NC_000016.9:g.226765A>T , CM000678.1:g.226765A>T GRCh37
NC_000016.8:g.166765A>T NCBI36
NG_000006.1:g.37629A>T
NG_059186.1:g.5116A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.50A>T MANE Select ENSP00000322421.5:p.Lys17Met
ENST00000397797.1:c.-2+4A>T ENSP00000380899.1:n.-2+4A>T
ENST00000472694.1:n.69A>T
ENST00000487791.1:n.19A>T
NM_000558.4:c.50A>T NP_000549.1:p.Lys17Met
NM_000558.5:c.50A>T MANE Select NP_000549.1:p.Lys17Met
Search 100 bp 5'
Search 100 bp 3'