Canonical Allele Identifier: CA379273675
Gene: HBB HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.5246871A>T (hg19) chr11:g.5225641A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225641A>T , CM000673.2:g.5225641A>T GRCh38
NC_000011.9:g.5246871A>T , CM000673.1:g.5246871A>T GRCh37
NC_000011.8:g.5203447A>T NCBI36
NG_000007.3:g.71975T>A
NG_059281.1:g.6431T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.401T>A ENSP00000494175.1:p.Val134Glu
ENST00000335295.4:c.401T>A MANE Select ENSP00000333994.3:p.Val134Glu
ENST00000633227.1:c.*217T>A ENSP00000488004.1:n.*217T>A
NM_000518.4:c.401T>A NP_000509.1:p.Val134Glu
NM_000518.5:c.401T>A MANE Select NP_000509.1:p.Val134Glu
Search 100 bp 5'
Search 100 bp 3'