Canonical Allele Identifier: CA379274626

Gene: HBB

Linked Data

• MyVariant Identifiers: chr11:g.5248022C>G (hg19) ; chr11:g.5226792C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226792C>G , CM000673.2:g.5226792C>G	GRCh38
NC_000011.9:g.5248022C>G , CM000673.1:g.5248022C>G	GRCh37
NC_000011.8:g.5204598C>G	NCBI36
NG_000007.3:g.70824G>C
NG_059281.1:g.5280G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.100G>C	ENSP00000494175.1:p.Val34Leu
ENST00000335295.4:c.100G>C MANE Select	ENSP00000333994.3:p.Val34Leu
ENST00000380315.2:c.100G>C	ENSP00000369671.2:p.Val34Leu
ENST00000475226.1:n.32G>C
ENST00000485743.1:n.151G>C
ENST00000633227.1:c.84G>C	ENSP00000488004.1:p.Trp28Cys
NM_000518.4:c.100G>C	NP_000509.1:p.Val34Leu
NM_000518.5:c.100G>C MANE Select	NP_000509.1:p.Val34Leu