Canonical Allele Identifier: CA379274655

Gene: HBB

Linked Data

• MyVariant Identifiers: chr11:g.5248030C>A (hg19) ; chr11:g.5226800C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226800C>A , CM000673.2:g.5226800C>A	GRCh38
NC_000011.9:g.5248030C>A , CM000673.1:g.5248030C>A	GRCh37
NC_000011.8:g.5204606C>A	NCBI36
NG_000007.3:g.70816G>T
NG_059281.1:g.5272G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.93-1G>T	ENSP00000494175.1:n.93-1G>T
ENST00000335295.4:c.93-1G>T MANE Select	ENSP00000333994.3:n.93-1G>T
ENST00000380315.2:c.93-1G>T	ENSP00000369671.2:n.93-1G>T
ENST00000475226.1:n.24G>T
ENST00000485743.1:n.144-1G>T
ENST00000633227.1:c.77-1G>T	ENSP00000488004.1:n.77-1G>T
NM_000518.4:c.93-1G>T	NP_000509.1:n.93-1G>T
NM_000518.5:c.93-1G>T MANE Select	NP_000509.1:n.93-1G>T