Canonical Allele Identifier: CA472885767

Gene: HBB

Linked Data

• dbSNP Id: rs1589892562
• MyVariant Identifiers: chr11:g.5247887G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226657G>A , CM000673.2:g.5226657G>A	GRCh38
NC_000011.9:g.5247887G>A , CM000673.1:g.5247887G>A	GRCh37
NC_000011.8:g.5204463G>A	NCBI36
NG_000007.3:g.70959C>T
NG_059281.1:g.5415C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.235C>T	ENSP00000494175.1:p.Leu79=
ENST00000335295.4:c.235C>T MANE Select	ENSP00000333994.3:p.Leu79=
ENST00000380315.2:c.235C>T	ENSP00000369671.2:p.Leu79=
ENST00000475226.1:n.167C>T
ENST00000485743.1:n.286C>T
ENST00000633227.1:c.*51C>T	ENSP00000488004.1:n.*51C>T
NM_000518.4:c.235C>T	NP_000509.1:p.Leu79=
NM_000518.5:c.235C>T MANE Select	NP_000509.1:p.Leu79=