Canonical Allele Identifier: CA125913
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 15827
ClinVar RCV Id: RCV000017170
dbSNP Id: rs28928878
MyVariant Identifiers: chr16:g.227011G>T (hg19) chr16:g.177012G>T (hg38)
PubMed: PMID:7275660
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177012G>T , CM000678.2:g.177012G>T GRCh38
NC_000016.9:g.227011G>T , CM000678.1:g.227011G>T GRCh37
NC_000016.8:g.167011G>T NCBI36
NG_000006.1:g.37875G>T
NG_059186.1:g.5362G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.179G>T MANE Select ENSP00000322421.5:p.Gly60Val
ENST00000397797.1:c.83G>T ENSP00000380899.1:p.Gly28Val
ENST00000472694.1:n.315G>T
ENST00000487791.1:n.148G>T
NM_000558.4:c.179G>T NP_000549.1:p.Gly60Val
NM_000558.5:c.179G>T MANE Select NP_000549.1:p.Gly60Val
Search 100 bp 5'
Search 100 bp 3'