Canonical Allele Identifier: CA276416837
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1330840
ClinVar RCV Id: RCV001811904
dbSNP Id: rs281864775
MyVariant Identifiers: chr16:g.227018G>T (hg19) chr16:g.177019G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177019G>T , CM000678.2:g.177019G>T GRCh38
NC_000016.9:g.227018G>T , CM000678.1:g.227018G>T GRCh37
NC_000016.8:g.167018G>T NCBI36
NG_000006.1:g.37882G>T
NG_059186.1:g.5369G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.186G>T MANE Select ENSP00000322421.5:p.Lys62Asn
ENST00000397797.1:c.90G>T ENSP00000380899.1:p.Lys30Asn
ENST00000472694.1:n.322G>T
ENST00000487791.1:n.155G>T
NM_000558.4:c.186G>T NP_000549.1:p.Lys62Asn
NM_000558.5:c.186G>T MANE Select NP_000549.1:p.Lys62Asn
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Search 100 bp 3'