Canonical Allele Identifier: CA125943
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 15845
ClinVar RCV Id: RCV000017190
dbSNP Id: rs34806456
MyVariant Identifiers: chr16:g.227130A>G (hg19) chr16:g.177131A>G (hg38)
PubMed: PMID:1634357 PMID:12779275
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.298A>G MANE Select ENSP00000322421.5:p.Lys100Glu
ENST00000397797.1:c.202A>G ENSP00000380899.1:p.Lys68Glu
ENST00000472694.1:n.434A>G
ENST00000487791.1:n.267A>G
NM_000558.4:c.298A>G NP_000549.1:p.Lys100Glu
NM_000558.5:c.298A>G MANE Select NP_000549.1:p.Lys100Glu
Search 100 bp 5'
Search 100 bp 3'