Canonical Allele Identifier: CA379273744

Gene: HBB

Linked Data

• MyVariant Identifiers: chr11:g.5246943A>G (hg19) ; chr11:g.5225713A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225713A>G , CM000673.2:g.5225713A>G	GRCh38
NC_000011.9:g.5246943A>G , CM000673.1:g.5246943A>G	GRCh37
NC_000011.8:g.5203519A>G	NCBI36
NG_000007.3:g.71903T>C
NG_059281.1:g.6359T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.329T>C	ENSP00000494175.1:p.Val110Ala
ENST00000335295.4:c.329T>C MANE Select	ENSP00000333994.3:p.Val110Ala
ENST00000475226.1:n.261T>C
ENST00000633227.1:c.*145T>C	ENSP00000488004.1:n.*145T>C
NM_000518.4:c.329T>C	NP_000509.1:p.Val110Ala
NM_000518.5:c.329T>C MANE Select	NP_000509.1:p.Val110Ala