Canonical Allele Identifier: CA2003790891

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092137G= , CM000673.2:g.119092137G=	GRCh38
NC_000011.9:g.118962847G= , CM000673.1:g.118962847G=	GRCh37
NC_000011.8:g.118468057G=	NCBI36
NG_008093.1:g.12261G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.460G=	ENSP00000509288.1:p.Glu154=
ENST00000691144.1:n.2366G=
ENST00000691249.1:n.1209G=
ENST00000442944.7:c.607G=	ENSP00000392041.3:p.Glu203=
ENST00000536813.6:c.574G=	ENSP00000438726.2:p.Glu192=
ENST00000546302.6:c.547G=	ENSP00000445599.1:p.Glu183=
ENST00000640813.1:c.461+263G=	ENSP00000491061.1:n.461+263G=
ENST00000648026.1:c.519G=	ENSP00000498044.1:p.Leu173=
ENST00000648374.1:c.574G=	ENSP00000497255.1:p.Glu192=
ENST00000648488.1:c.*98G=	ENSP00000498079.1:n.*98G=
ENST00000649823.1:n.842G=
ENST00000650101.1:c.556G=	ENSP00000496970.1:p.Glu186=
ENST00000650307.1:n.1451G=
ENST00000652429.1:c.625G= MANE Select	ENSP00000498786.1:p.Glu209=
ENST00000278715.7:c.625G=	ENSP00000278715.3:p.Glu209=
ENST00000392841.1:c.574G=	ENSP00000376584.1:p.Glu192=
ENST00000442944.6:c.574G=	ENSP00000392041.2:p.Glu192=
ENST00000537841.5:c.574G=	ENSP00000444730.1:p.Glu192=
ENST00000542044.5:n.1070G=
ENST00000542345.5:n.763G=
ENST00000542729.5:c.574G=	ENSP00000443058.1:p.Glu192=
ENST00000543090.5:c.559-267G=	ENSP00000445429.1:n.559-267G=
ENST00000543543.5:n.860G=
ENST00000544182.1:n.600G=
ENST00000544387.5:c.625G=	ENSP00000438424.1:p.Glu209=
ENST00000545621.5:c.*520G=	ENSP00000444849.1:n.*520G=
ENST00000546226.5:n.913G=
ENST00000546302.5:c.547G=	ENSP00000445599.1:p.Glu183=
NM_000190.3:c.625G=	NP_000181.2:p.Glu209=
NM_001024382.1:c.574G=	NP_001019553.1:p.Glu192=
NM_001258208.1:c.625G=	NP_001245137.1:p.Glu209=
NM_001258209.1:c.574G=	NP_001245138.1:p.Glu192=
XM_005271531.1:c.574G=	XP_005271588.1:p.Glu192=
XM_005271532.1:c.574G=	XP_005271589.1:p.Glu192=
XM_005271533.2:c.571G=	XP_005271590.1:p.Glu191=
XM_011542796.1:c.460G=	XP_011541098.1:p.Glu154=
NM_000190.4:c.625G= MANE Select	NP_000181.2:p.Glu209=
NM_001024382.2:c.574G=	NP_001019553.1:p.Glu192=
XM_005271533.3:c.571G=	XP_005271590.1:p.Glu191=
XM_017017629.1:c.574G=	XP_016873118.1:p.Glu192=
XM_024448460.1:c.571G=	XP_024304228.1:p.Glu191=
NM_001258208.2:c.625G=	NP_001245137.1:p.Glu209=
NM_001258209.2:c.574G=	NP_001245138.1:p.Glu192=