Canonical Allele Identifier: CA393994888
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2573442
ClinVar RCV Id: RCV003317778
dbSNP Id: rs1316527998
gnomAD v4: 16-176718-T-A
MyVariant Identifiers: chr16:g.226717T>A (hg19) chr16:g.176718T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176718T>A , CM000678.2:g.176718T>A GRCh38
NC_000016.9:g.226717T>A , CM000678.1:g.226717T>A GRCh37
NC_000016.8:g.166717T>A NCBI36
NG_000006.1:g.37581T>A
NG_059186.1:g.5068T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.2T>A MANE Select ENSP00000322421.5:p.Met1Lys
ENST00000397797.1:c.-46T>A ENSP00000380899.1:n.-46T>A
ENST00000472694.1:n.21T>A
NM_000558.4:c.2T>A NP_000549.1:p.Met1Lys
NM_000558.5:c.2T>A MANE Select NP_000549.1:p.Met1Lys
Search 100 bp 5'
Search 100 bp 3'