Canonical Allele Identifier: CA492994451
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs1902170397
gnomAD v4: 16-177360-G-A
MyVariant Identifiers: chr16:g.227359G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177360G>A , CM000678.2:g.177360G>A GRCh38
NC_000016.9:g.227359G>A , CM000678.1:g.227359G>A GRCh37
NC_000016.8:g.167359G>A NCBI36
NG_000006.1:g.38223G>A
NG_059186.1:g.5710G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.378G>A MANE Select ENSP00000322421.5:p.Leu126=
ENST00000397797.1:c.282G>A ENSP00000380899.1:p.Leu94=
ENST00000472694.1:n.514G>A
NM_000558.4:c.378G>A NP_000549.1:p.Leu126=
NM_000558.5:c.378G>A MANE Select NP_000549.1:p.Leu126=
Search 100 bp 5'
Search 100 bp 3'