Canonical Allele Identifier: CA492994489
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs756921401
gnomAD v4: 16-177390-G-A
MyVariant Identifiers: chr16:g.227389G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177390G>A , CM000678.2:g.177390G>A GRCh38
NC_000016.9:g.227389G>A , CM000678.1:g.227389G>A GRCh37
NC_000016.8:g.167389G>A NCBI36
NG_000006.1:g.38253G>A
NG_059186.1:g.5740G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.408G>A MANE Select ENSP00000322421.5:p.Val136=
ENST00000397797.1:c.312G>A ENSP00000380899.1:p.Val104=
ENST00000472694.1:n.544G>A
NM_000558.4:c.408G>A NP_000549.1:p.Val136=
NM_000558.5:c.408G>A MANE Select NP_000549.1:p.Val136=
Search 100 bp 5'
Search 100 bp 3'