Canonical Allele Identifier: CA492994514
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs1902155521
MyVariant Identifiers: chr16:g.227000T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177001T>G , CM000678.2:g.177001T>G GRCh38
NC_000016.9:g.227000T>G , CM000678.1:g.227000T>G GRCh37
NC_000016.8:g.167000T>G NCBI36
NG_000006.1:g.37864T>G
NG_059186.1:g.5351T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.168T>G MANE Select ENSP00000322421.5:p.Val56=
ENST00000397797.1:c.72T>G ENSP00000380899.1:p.Val24=
ENST00000472694.1:n.304T>G
ENST00000487791.1:n.137T>G
NM_000558.4:c.168T>G NP_000549.1:p.Val56=
NM_000558.5:c.168T>G MANE Select NP_000549.1:p.Val56=