Canonical Allele Identifier: CA2003792736

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092960G= , CM000673.2:g.119092960G=	GRCh38
NC_000011.9:g.118963670G= , CM000673.1:g.118963670G=	GRCh37
NC_000011.8:g.118468880G=	NCBI36
NG_008093.1:g.13084G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.686G=	ENSP00000509288.1:p.Ser229=
ENST00000691144.1:n.3066G=
ENST00000691249.1:n.1675G=
ENST00000442944.7:c.833G=	ENSP00000392041.3:p.Ser278=
ENST00000640813.1:c.*88G=	ENSP00000491061.1:n.*88G=
ENST00000648026.1:c.745G=	ENSP00000498044.1:n.745G=
ENST00000648374.1:c.800G=	ENSP00000497255.1:p.Ser267=
ENST00000650101.1:c.782G=	ENSP00000496970.1:p.Ser261=
ENST00000650307.1:n.1677G=
ENST00000652429.1:c.851G= MANE Select	ENSP00000498786.1:p.Ser284=
ENST00000278715.7:c.851G=	ENSP00000278715.3:p.Ser284=
ENST00000392841.1:c.800G=	ENSP00000376584.1:p.Ser267=
ENST00000442944.6:c.800G=	ENSP00000392041.2:p.Ser267=
ENST00000537841.5:c.800G=	ENSP00000444730.1:p.Ser267=
ENST00000539045.1:n.350G=
ENST00000542044.5:n.1296G=
ENST00000542729.5:c.680G=	ENSP00000443058.1:p.Ser227=
ENST00000543090.5:c.758G=	ENSP00000445429.1:p.Ser253=
ENST00000543543.5:n.1326G=
ENST00000544182.1:n.1300G=
ENST00000544387.5:c.731G=	ENSP00000438424.1:p.Ser244=
ENST00000546226.5:n.1613G=
NM_000190.3:c.851G=	NP_000181.2:p.Ser284=
NM_001024382.1:c.800G=	NP_001019553.1:p.Ser267=
NM_001258208.1:c.731G=	NP_001245137.1:p.Ser244=
NM_001258209.1:c.680G=	NP_001245138.1:p.Ser227=
XM_005271531.1:c.800G=	XP_005271588.1:p.Ser267=
XM_005271532.1:c.800G=	XP_005271589.1:p.Ser267=
XM_005271533.2:c.797G=	XP_005271590.1:p.Ser266=
XM_011542796.1:c.686G=	XP_011541098.1:p.Ser229=
NM_000190.4:c.851G= MANE Select	NP_000181.2:p.Ser284=
NM_001024382.2:c.800G=	NP_001019553.1:p.Ser267=
XM_005271533.3:c.797G=	XP_005271590.1:p.Ser266=
XM_017017629.1:c.800G=	XP_016873118.1:p.Ser267=
XM_024448460.1:c.677G=	XP_024304228.1:p.Ser226=
NM_001258208.2:c.731G=	NP_001245137.1:p.Ser244=
NM_001258209.2:c.680G=	NP_001245138.1:p.Ser227=