Canonical Allele Identifier: CA125981
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 15866
ClinVar RCV Id: RCV000017212
dbSNP Id: rs34733452
COSMIC: COSM4410217
MyVariant Identifiers: chr16:g.227029C>T (hg19) chr16:g.177030C>T (hg38)
PubMed: PMID:8537232
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177030C>T , CM000678.2:g.177030C>T GRCh38
NC_000016.9:g.227029C>T , CM000678.1:g.227029C>T GRCh37
NC_000016.8:g.167029C>T NCBI36
NG_000006.1:g.37893C>T
NG_059186.1:g.5380C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.197C>T MANE Select ENSP00000322421.5:p.Ala66Val
ENST00000397797.1:c.101C>T ENSP00000380899.1:p.Ala34Val
ENST00000472694.1:n.333C>T
ENST00000487791.1:n.166C>T
NM_000558.4:c.197C>T NP_000549.1:p.Ala66Val
NM_000558.5:c.197C>T MANE Select NP_000549.1:p.Ala66Val
Search 100 bp 5'
Search 100 bp 3'