Canonical Allele Identifier: CA492786978
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs768017043
gnomAD v2: 16-226784-C-A
gnomAD v4: 16-176785-C-A
MyVariant Identifiers: chr16:g.226784C>A (hg19) chr16:g.176785C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176785C>A , CM000678.2:g.176785C>A GRCh38
NC_000016.9:g.226784C>A , CM000678.1:g.226784C>A GRCh37
NC_000016.8:g.166784C>A NCBI36
NG_000006.1:g.37648C>A
NG_059186.1:g.5135C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.69C>A MANE Select ENSP00000322421.5:p.Gly23=
ENST00000397797.1:c.-2+23C>A ENSP00000380899.1:n.-2+23C>A
ENST00000472694.1:n.88C>A
ENST00000487791.1:n.38C>A
NM_000558.4:c.69C>A NP_000549.1:p.Gly23=
NM_000558.5:c.69C>A MANE Select NP_000549.1:p.Gly23=
Search 100 bp 5'
Search 100 bp 3'