Canonical Allele Identifier: CA2003791507

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092419G= , CM000673.2:g.119092419G=	GRCh38
NC_000011.9:g.118963129G= , CM000673.1:g.118963129G=	GRCh37
NC_000011.8:g.118468339G=	NCBI36
NG_008093.1:g.12543G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.502G=	ENSP00000509288.1:p.Glu168=
ENST00000691144.1:n.2648G=
ENST00000691249.1:n.1491G=
ENST00000442944.7:c.649G=	ENSP00000392041.3:p.Glu217=
ENST00000536813.6:c.616G=	ENSP00000438726.2:p.Glu206=
ENST00000640813.1:c.477G=	ENSP00000491061.1:p.Trp159=
ENST00000648026.1:c.561G=	ENSP00000498044.1:p.Trp187=
ENST00000648374.1:c.616G=	ENSP00000497255.1:p.Glu206=
ENST00000649823.1:n.1124G=
ENST00000650101.1:c.598G=	ENSP00000496970.1:p.Glu200=
ENST00000650307.1:n.1493G=
ENST00000652429.1:c.667G= MANE Select	ENSP00000498786.1:p.Glu223=
ENST00000278715.7:c.667G=	ENSP00000278715.3:p.Glu223=
ENST00000392841.1:c.616G=	ENSP00000376584.1:p.Glu206=
ENST00000442944.6:c.616G=	ENSP00000392041.2:p.Glu206=
ENST00000537841.5:c.616G=	ENSP00000444730.1:p.Glu206=
ENST00000542044.5:n.1112G=
ENST00000542729.5:c.600+256G=	ENSP00000443058.1:n.600+256G=
ENST00000543090.5:c.574G=	ENSP00000445429.1:p.Glu192=
ENST00000543543.5:n.1142G=
ENST00000544182.1:n.882G=
ENST00000544387.5:c.651+256G=	ENSP00000438424.1:n.651+256G=
ENST00000545621.5:c.*802G=	ENSP00000444849.1:n.*802G=
ENST00000546226.5:n.1195G=
NM_000190.3:c.667G=	NP_000181.2:p.Glu223=
NM_001024382.1:c.616G=	NP_001019553.1:p.Glu206=
NM_001258208.1:c.651+256G=	NP_001245137.1:n.651+256G=
NM_001258209.1:c.600+256G=	NP_001245138.1:n.600+256G=
XM_005271531.1:c.616G=	XP_005271588.1:p.Glu206=
XM_005271532.1:c.616G=	XP_005271589.1:p.Glu206=
XM_005271533.2:c.613G=	XP_005271590.1:p.Glu205=
XM_011542796.1:c.502G=	XP_011541098.1:p.Glu168=
NM_000190.4:c.667G= MANE Select	NP_000181.2:p.Glu223=
NM_001024382.2:c.616G=	NP_001019553.1:p.Glu206=
XM_005271533.3:c.613G=	XP_005271590.1:p.Glu205=
XM_017017629.1:c.616G=	XP_016873118.1:p.Glu206=
XM_024448460.1:c.597+256G=	XP_024304228.1:n.597+256G=
NM_001258208.2:c.651+256G=	NP_001245137.1:n.651+256G=
NM_001258209.2:c.600+256G=	NP_001245138.1:n.600+256G=