Canonical Allele Identifier: CA393995653
Gene: HBA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.227127T>G (hg19) chr16:g.177128T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177128T>G , CM000678.2:g.177128T>G GRCh38
NC_000016.9:g.227127T>G , CM000678.1:g.227127T>G GRCh37
NC_000016.8:g.167127T>G NCBI36
NG_000006.1:g.37991T>G
NG_059186.1:g.5478T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.295T>G MANE Select ENSP00000322421.5:p.Phe99Val
ENST00000397797.1:c.199T>G ENSP00000380899.1:p.Phe67Val
ENST00000472694.1:n.431T>G
ENST00000487791.1:n.264T>G
NM_000558.4:c.295T>G NP_000549.1:p.Phe99Val
NM_000558.5:c.295T>G MANE Select NP_000549.1:p.Phe99Val
Search 100 bp 5'
Search 100 bp 3'