Canonical Allele Identifier: CA125699
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 15712
ClinVar RCV Id: RCV000017006 RCV001283982
dbSNP Id: rs33910377
MyVariant Identifiers: chr16:g.227325C>G (hg19) chr16:g.177326C>G (hg38)
PubMed: PMID:5650416
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177326C>G , CM000678.2:g.177326C>G GRCh38
NC_000016.9:g.227325C>G , CM000678.1:g.227325C>G GRCh37
NC_000016.8:g.167325C>G NCBI36
NG_000006.1:g.38189C>G
NG_059186.1:g.5676C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.344C>G MANE Select ENSP00000322421.5:p.Pro115Arg
ENST00000397797.1:c.248C>G ENSP00000380899.1:p.Pro83Arg
ENST00000472694.1:n.480C>G
NM_000558.4:c.344C>G NP_000549.1:p.Pro115Arg
NM_000558.5:c.344C>G MANE Select NP_000549.1:p.Pro115Arg
Search 100 bp 5'
Search 100 bp 3'