Canonical Allele Identifier: CA472638373
Gene: HBB HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.5246885A>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225655A>C , CM000673.2:g.5225655A>C GRCh38
NC_000011.9:g.5246885A>C , CM000673.1:g.5246885A>C GRCh37
NC_000011.8:g.5203461A>C NCBI36
NG_000007.3:g.71961T>G
NG_059281.1:g.6417T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.387T>G ENSP00000494175.1:p.Ala129=
ENST00000335295.4:c.387T>G MANE Select ENSP00000333994.3:p.Ala129=
ENST00000475226.1:n.319T>G
ENST00000633227.1:c.*203T>G ENSP00000488004.1:n.*203T>G
NM_000518.4:c.387T>G NP_000509.1:p.Ala129=
NM_000518.5:c.387T>G MANE Select NP_000509.1:p.Ala129=
Search 100 bp 5'
Search 100 bp 3'