Canonical Allele Identifier: CA2003793477

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093238C= , CM000673.2:g.119093238C=	GRCh38
NC_000011.9:g.118963948C= , CM000673.1:g.118963948C=	GRCh37
NC_000011.8:g.118469158C=	NCBI36
NG_008093.1:g.13362C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.876C=	ENSP00000509288.1:p.Ala292=
ENST00000691144.1:n.3256C=
ENST00000691249.1:n.1865C=
ENST00000442944.7:c.1023C=	ENSP00000392041.3:p.Ala341=
ENST00000640813.1:c.*278C=	ENSP00000491061.1:n.*278C=
ENST00000648026.1:c.935C=	ENSP00000498044.1:n.935C=
ENST00000648374.1:c.990C=	ENSP00000497255.1:p.Ala330=
ENST00000650101.1:c.972C=	ENSP00000496970.1:p.Ala324=
ENST00000650307.1:n.1867C=
ENST00000652429.1:c.1041C= MANE Select	ENSP00000498786.1:p.Ala347=
ENST00000278715.7:c.1041C=	ENSP00000278715.3:p.Ala347=
ENST00000392841.1:c.990C=	ENSP00000376584.1:p.Ala330=
ENST00000442944.6:c.990C=	ENSP00000392041.2:p.Ala330=
ENST00000537841.5:c.990C=	ENSP00000444730.1:p.Ala330=
ENST00000539045.1:n.540C=
ENST00000542044.5:n.1486C=
ENST00000542729.5:c.870C=	ENSP00000443058.1:p.Ala290=
ENST00000543090.5:c.948C=	ENSP00000445429.1:p.Ala316=
ENST00000543543.5:n.1516C=
ENST00000544182.1:n.1490C=
ENST00000544387.5:c.921C=	ENSP00000438424.1:p.Ala307=
ENST00000546226.5:n.1803C=
NM_000190.3:c.1041C=	NP_000181.2:p.Ala347=
NM_001024382.1:c.990C=	NP_001019553.1:p.Ala330=
NM_001258208.1:c.921C=	NP_001245137.1:p.Ala307=
NM_001258209.1:c.870C=	NP_001245138.1:p.Ala290=
XM_005271531.1:c.990C=	XP_005271588.1:p.Ala330=
XM_005271532.1:c.990C=	XP_005271589.1:p.Ala330=
XM_005271533.2:c.987C=	XP_005271590.1:p.Ala329=
XM_011542796.1:c.876C=	XP_011541098.1:p.Ala292=
NM_000190.4:c.1041C= MANE Select	NP_000181.2:p.Ala347=
NM_001024382.2:c.990C=	NP_001019553.1:p.Ala330=
XM_005271533.3:c.987C=	XP_005271590.1:p.Ala329=
XM_017017629.1:c.990C=	XP_016873118.1:p.Ala330=
XM_024448460.1:c.867C=	XP_024304228.1:p.Ala289=
NM_001258208.2:c.921C=	NP_001245137.1:p.Ala307=
NM_001258209.2:c.870C=	NP_001245138.1:p.Ala290=