Canonical Allele Identifier: CA379273914

Gene: HBB

Linked Data

• MyVariant Identifiers: chr11:g.5247956T>A (hg19) ; chr11:g.5226726T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226726T>A , CM000673.2:g.5226726T>A	GRCh38
NC_000011.9:g.5247956T>A , CM000673.1:g.5247956T>A	GRCh37
NC_000011.8:g.5204532T>A	NCBI36
NG_000007.3:g.70890A>T
NG_059281.1:g.5346A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.166A>T	ENSP00000494175.1:p.Met56Leu
ENST00000335295.4:c.166A>T MANE Select	ENSP00000333994.3:p.Met56Leu
ENST00000380315.2:c.166A>T	ENSP00000369671.2:p.Met56Leu
ENST00000475226.1:n.98A>T
ENST00000485743.1:n.217A>T
ENST00000633227.1:c.150A>T	ENSP00000488004.1:p.Leu50Phe
NM_000518.4:c.166A>T	NP_000509.1:p.Met56Leu
NM_000518.5:c.166A>T MANE Select	NP_000509.1:p.Met56Leu