Canonical Allele Identifier: CA472638316
Gene: HBB HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.5246864A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225634A>T , CM000673.2:g.5225634A>T GRCh38
NC_000011.9:g.5246864A>T , CM000673.1:g.5246864A>T GRCh37
NC_000011.8:g.5203440A>T NCBI36
NG_000007.3:g.71982T>A
NG_059281.1:g.6438T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.408T>A ENSP00000494175.1:p.Ala136=
ENST00000335295.4:c.408T>A MANE Select ENSP00000333994.3:p.Ala136=
ENST00000633227.1:c.*224T>A ENSP00000488004.1:n.*224T>A
NM_000518.4:c.408T>A NP_000509.1:p.Ala136=
NM_000518.5:c.408T>A MANE Select NP_000509.1:p.Ala136=