Canonical Allele Identifier: CA2003792917

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093013C= , CM000673.2:g.119093013C=	GRCh38
NC_000011.9:g.118963723C= , CM000673.1:g.118963723C=	GRCh37
NC_000011.8:g.118468933C=	NCBI36
NG_008093.1:g.13137C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.739C=	ENSP00000509288.1:p.Pro247=
ENST00000691144.1:n.3119C=
ENST00000691249.1:n.1728C=
ENST00000442944.7:c.886C=	ENSP00000392041.3:p.Pro296=
ENST00000640813.1:c.*141C=	ENSP00000491061.1:n.*141C=
ENST00000648026.1:c.798C=	ENSP00000498044.1:n.798C=
ENST00000648374.1:c.853C=	ENSP00000497255.1:p.Pro285=
ENST00000650101.1:c.835C=	ENSP00000496970.1:p.Pro279=
ENST00000650307.1:n.1730C=
ENST00000652429.1:c.904C= MANE Select	ENSP00000498786.1:p.Pro302=
ENST00000278715.7:c.904C=	ENSP00000278715.3:p.Pro302=
ENST00000392841.1:c.853C=	ENSP00000376584.1:p.Pro285=
ENST00000442944.6:c.853C=	ENSP00000392041.2:p.Pro285=
ENST00000537841.5:c.853C=	ENSP00000444730.1:p.Pro285=
ENST00000539045.1:n.403C=
ENST00000542044.5:n.1349C=
ENST00000542729.5:c.733C=	ENSP00000443058.1:p.Pro245=
ENST00000543090.5:c.811C=	ENSP00000445429.1:p.Pro271=
ENST00000543543.5:n.1379C=
ENST00000544182.1:n.1353C=
ENST00000544387.5:c.784C=	ENSP00000438424.1:p.Pro262=
ENST00000546226.5:n.1666C=
NM_000190.3:c.904C=	NP_000181.2:p.Pro302=
NM_001024382.1:c.853C=	NP_001019553.1:p.Pro285=
NM_001258208.1:c.784C=	NP_001245137.1:p.Pro262=
NM_001258209.1:c.733C=	NP_001245138.1:p.Pro245=
XM_005271531.1:c.853C=	XP_005271588.1:p.Pro285=
XM_005271532.1:c.853C=	XP_005271589.1:p.Pro285=
XM_005271533.2:c.850C=	XP_005271590.1:p.Pro284=
XM_011542796.1:c.739C=	XP_011541098.1:p.Pro247=
NM_000190.4:c.904C= MANE Select	NP_000181.2:p.Pro302=
NM_001024382.2:c.853C=	NP_001019553.1:p.Pro285=
XM_005271533.3:c.850C=	XP_005271590.1:p.Pro284=
XM_017017629.1:c.853C=	XP_016873118.1:p.Pro285=
XM_024448460.1:c.730C=	XP_024304228.1:p.Pro244=
NM_001258208.2:c.784C=	NP_001245137.1:p.Pro262=
NM_001258209.2:c.733C=	NP_001245138.1:p.Pro245=