Canonical Allele Identifier: CA379274551

Gene: HBB

Linked Data

• MyVariant Identifiers: chr11:g.5248002C>A (hg19) ; chr11:g.5226772C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226772C>A , CM000673.2:g.5226772C>A	GRCh38
NC_000011.9:g.5248002C>A , CM000673.1:g.5248002C>A	GRCh37
NC_000011.8:g.5204578C>A	NCBI36
NG_000007.3:g.70844G>T
NG_059281.1:g.5300G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.120G>T	ENSP00000494175.1:p.Gln40His
ENST00000335295.4:c.120G>T MANE Select	ENSP00000333994.3:p.Gln40His
ENST00000380315.2:c.120G>T	ENSP00000369671.2:p.Gln40His
ENST00000475226.1:n.52G>T
ENST00000485743.1:n.171G>T
ENST00000633227.1:c.104G>T	ENSP00000488004.1:p.Arg35Ile
NM_000518.4:c.120G>T	NP_000509.1:p.Gln40His
NM_000518.5:c.120G>T MANE Select	NP_000509.1:p.Gln40His