Canonical Allele Identifier: CA125895
Gene: HBA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 15818
ClinVar RCV Id: RCV000017160
dbSNP Id: rs34440919

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177070C>G , CM000678.2:g.177070C>G GRCh38
NC_000016.9:g.227069C>G , CM000678.1:g.227069C>G GRCh37
NC_000016.8:g.167069C>G NCBI36
NG_000006.1:g.37933C>G
NG_059186.1:g.5420C>G

Transcript Alleles

HGVS Amino-acid change
NM_000558.4:c.237C>G VV NP_000549.1:p.Asn79Lys
NM_000558.5:c.237C>G VV MANE Preferred NP_000549.1:p.Asn79Lys
ENST00000320868.9:c.237C>G ENSP00000322421.5:p.Asn79Lys
ENST00000397797.1:c.141C>G ENSP00000380899.1:p.Asn47Lys
ENST00000472694.1:n.373C>G
ENST00000487791.1:n.206C>G