Canonical Allele Identifier: CA393995041
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3075901
ClinVar RCV Id: RCV004018219
dbSNP Id: rs1455943416
gnomAD v2: 16-226931-G-A
gnomAD v3: 16-176932-G-A
gnomAD v4: 16-176932-G-A
MyVariant Identifiers: chr16:g.226931G>A (hg19) chr16:g.226931_226932delinsAT (hg19) chr16:g.176932G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176932G>A , CM000678.2:g.176932G>A GRCh38
NC_000016.9:g.226931G>A , CM000678.1:g.226931G>A GRCh37
NC_000016.8:g.166931G>A NCBI36
NG_000006.1:g.37795G>A
NG_059186.1:g.5282G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.99G>A MANE Select ENSP00000322421.5:p.Met33Ile
ENST00000397797.1:c.3G>A ENSP00000380899.1:p.Met1Ile
ENST00000472694.1:n.235G>A
ENST00000487791.1:n.68G>A
NM_000558.4:c.99G>A NP_000549.1:p.Met33Ile
NM_000558.5:c.99G>A MANE Select NP_000549.1:p.Met33Ile
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