Canonical Allele Identifier: CA2003782786

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119089707G= , CM000673.2:g.119089707G=	GRCh38
NC_000011.9:g.118960417G= , CM000673.1:g.118960417G=	GRCh37
NC_000011.8:g.118465627G=	NCBI36
NG_008093.1:g.9831G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.126G=	ENSP00000509288.1:p.Leu42=
ENST00000686690.1:n.912G=
ENST00000691144.1:n.2032G=
ENST00000691249.1:n.875G=
ENST00000442944.7:c.273G=	ENSP00000392041.3:p.Leu91=
ENST00000534956.2:n.240G=
ENST00000536813.6:c.240G=	ENSP00000438726.2:p.Leu80=
ENST00000546302.6:c.267-283G=	ENSP00000445599.1:n.267-283G=
ENST00000640813.1:c.240G=	ENSP00000491061.1:p.Leu80=
ENST00000648026.1:c.285G=	ENSP00000498044.1:p.Leu95=
ENST00000648374.1:c.240G=	ENSP00000497255.1:p.Leu80=
ENST00000648488.1:c.240G=	ENSP00000498079.1:p.Leu80=
ENST00000649823.1:n.508G=
ENST00000649868.1:c.146G=	ENSP00000497548.1:p.Ter49=
ENST00000650101.1:c.222G=	ENSP00000496970.1:p.Leu74=
ENST00000650307.1:n.1117G=
ENST00000652429.1:c.291G= MANE Select	ENSP00000498786.1:p.Leu97=
ENST00000278715.7:c.291G=	ENSP00000278715.3:p.Leu97=
ENST00000392841.1:c.240G=	ENSP00000376584.1:p.Leu80=
ENST00000442944.6:c.240G=	ENSP00000392041.2:p.Leu80=
ENST00000534956.1:n.207G=
ENST00000535253.5:c.240G=	ENSP00000442079.1:p.Leu80=
ENST00000535793.5:c.*186G=	ENSP00000439904.1:n.*186G=
ENST00000536185.5:n.409G=
ENST00000536813.5:c.273G=	ENSP00000438726.1:p.Leu91=
ENST00000537841.5:c.240G=	ENSP00000444730.1:p.Leu80=
ENST00000539986.5:c.240G=	ENSP00000440092.1:p.Leu80=
ENST00000542044.5:n.736G=
ENST00000542345.5:n.429G=
ENST00000542729.5:c.240G=	ENSP00000443058.1:p.Leu80=
ENST00000542822.5:c.*227G=	ENSP00000444817.1:n.*227G=
ENST00000543090.5:c.237G=	ENSP00000445429.1:p.Leu79=
ENST00000543543.5:n.526G=
ENST00000543821.5:n.437G=
ENST00000544360.5:n.259G=
ENST00000544387.5:c.291G=	ENSP00000438424.1:p.Leu97=
ENST00000545621.5:c.*186G=	ENSP00000444849.1:n.*186G=
ENST00000546226.5:n.350G=
ENST00000546302.5:c.267-283G=	ENSP00000445599.1:n.267-283G=
NM_000190.3:c.291G=	NP_000181.2:p.Leu97=
NM_001024382.1:c.240G=	NP_001019553.1:p.Leu80=
NM_001258208.1:c.291G=	NP_001245137.1:p.Leu97=
NM_001258209.1:c.240G=	NP_001245138.1:p.Leu80=
XM_005271531.1:c.240G=	XP_005271588.1:p.Leu80=
XM_005271532.1:c.240G=	XP_005271589.1:p.Leu80=
XM_005271533.2:c.237G=	XP_005271590.1:p.Leu79=
XM_011542796.1:c.126G=	XP_011541098.1:p.Leu42=
NM_000190.4:c.291G= MANE Select	NP_000181.2:p.Leu97=
NM_001024382.2:c.240G=	NP_001019553.1:p.Leu80=
XM_005271533.3:c.237G=	XP_005271590.1:p.Leu79=
XM_017017629.1:c.240G=	XP_016873118.1:p.Leu80=
XM_024448460.1:c.237G=	XP_024304228.1:p.Leu79=
NM_001258208.2:c.291G=	NP_001245137.1:p.Leu97=
NM_001258209.2:c.240G=	NP_001245138.1:p.Leu80=