Canonical Allele Identifier: CA125825
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 15782
ClinVar RCV Id: RCV000017109 RCV000017110 RCV000017111 RCV000017112 RCV000017113
dbSNP Id: rs35317336
MyVariant Identifiers: chr16:g.226995C>G (hg19) chr16:g.176996C>G (hg38)
PubMed: PMID:4225368 PMID:5650416 PMID:5798597 PMID:6012906 PMID:6038433 PMID:6298095
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176996C>G , CM000678.2:g.176996C>G GRCh38
NC_000016.9:g.226995C>G , CM000678.1:g.226995C>G GRCh37
NC_000016.8:g.166995C>G NCBI36
NG_000006.1:g.37859C>G
NG_059186.1:g.5346C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.163C>G MANE Select ENSP00000322421.5:p.Gln55Glu
ENST00000397797.1:c.67C>G ENSP00000380899.1:p.Gln23Glu
ENST00000472694.1:n.299C>G
ENST00000487791.1:n.132C>G
NM_000558.4:c.163C>G NP_000549.1:p.Gln55Glu
NM_000558.5:c.163C>G MANE Select NP_000549.1:p.Gln55Glu
Search 100 bp 5'
Search 100 bp 3'