Canonical Allele Identifier: CA276417252
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs35082275
gnomAD v4: 16-177383-G-A
MyVariant Identifiers: chr16:g.227382G>A (hg19) chr16:g.177383G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177383G>A , CM000678.2:g.177383G>A GRCh38
NC_000016.9:g.227382G>A , CM000678.1:g.227382G>A GRCh37
NC_000016.8:g.167382G>A NCBI36
NG_000006.1:g.38246G>A
NG_059186.1:g.5733G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.401G>A MANE Select ENSP00000322421.5:p.Ser134Asn
ENST00000397797.1:c.305G>A ENSP00000380899.1:p.Ser102Asn
ENST00000472694.1:n.537G>A
NM_000558.4:c.401G>A NP_000549.1:p.Ser134Asn
NM_000558.5:c.401G>A MANE Select NP_000549.1:p.Ser134Asn
Search 100 bp 5'
Search 100 bp 3'