Canonical Allele Identifier: CA125955
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 15852
ClinVar RCV Id: RCV000017197
dbSNP Id: rs35166834
MyVariant Identifiers: chr16:g.227379T>G (hg19) chr16:g.177380T>G (hg38)
PubMed: PMID:8294200
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177380T>G , CM000678.2:g.177380T>G GRCh38
NC_000016.9:g.227379T>G , CM000678.1:g.227379T>G GRCh37
NC_000016.8:g.167379T>G NCBI36
NG_000006.1:g.38243T>G
NG_059186.1:g.5730T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.398T>G MANE Select ENSP00000322421.5:p.Val133Gly
ENST00000397797.1:c.302T>G ENSP00000380899.1:p.Val101Gly
ENST00000472694.1:n.534T>G
NM_000558.4:c.398T>G NP_000549.1:p.Val133Gly
NM_000558.5:c.398T>G MANE Select NP_000549.1:p.Val133Gly
Search 100 bp 5'
Search 100 bp 3'