Canonical Allele Identifier: CA125813
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 15776
ClinVar RCV Id: RCV000017096 RCV000656378
dbSNP Id: rs35239527
gnomAD v4: 16-177098-G-T
MyVariant Identifiers: chr16:g.227097G>T (hg19) chr16:g.177098G>T (hg38)
PubMed: PMID:3142772
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177098G>T , CM000678.2:g.177098G>T GRCh38
NC_000016.9:g.227097G>T , CM000678.1:g.227097G>T GRCh37
NC_000016.8:g.167097G>T NCBI36
NG_000006.1:g.37961G>T
NG_059186.1:g.5448G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.265G>T MANE Select ENSP00000322421.5:p.Ala89Ser
ENST00000397797.1:c.169G>T ENSP00000380899.1:p.Ala57Ser
ENST00000472694.1:n.401G>T
ENST00000487791.1:n.234G>T
NM_000558.4:c.265G>T NP_000549.1:p.Ala89Ser
NM_000558.5:c.265G>T MANE Select NP_000549.1:p.Ala89Ser
Search 100 bp 5'
Search 100 bp 3'