Canonical Allele Identifier: CA2003793386

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093181G= , CM000673.2:g.119093181G=	GRCh38
NC_000011.9:g.118963891G= , CM000673.1:g.118963891G=	GRCh37
NC_000011.8:g.118469101G=	NCBI36
NG_008093.1:g.13305G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.819G=	ENSP00000509288.1:p.Gln273=
ENST00000691144.1:n.3199G=
ENST00000691249.1:n.1808G=
ENST00000442944.7:c.966G=	ENSP00000392041.3:p.Gln322=
ENST00000640813.1:c.*221G=	ENSP00000491061.1:n.*221G=
ENST00000648026.1:c.878G=	ENSP00000498044.1:n.878G=
ENST00000648374.1:c.933G=	ENSP00000497255.1:p.Gln311=
ENST00000650101.1:c.915G=	ENSP00000496970.1:p.Gln305=
ENST00000650307.1:n.1810G=
ENST00000652429.1:c.984G= MANE Select	ENSP00000498786.1:p.Gln328=
ENST00000278715.7:c.984G=	ENSP00000278715.3:p.Gln328=
ENST00000392841.1:c.933G=	ENSP00000376584.1:p.Gln311=
ENST00000442944.6:c.933G=	ENSP00000392041.2:p.Gln311=
ENST00000537841.5:c.933G=	ENSP00000444730.1:p.Gln311=
ENST00000539045.1:n.483G=
ENST00000542044.5:n.1429G=
ENST00000542729.5:c.813G=	ENSP00000443058.1:p.Gln271=
ENST00000543090.5:c.891G=	ENSP00000445429.1:p.Gln297=
ENST00000543543.5:n.1459G=
ENST00000544182.1:n.1433G=
ENST00000544387.5:c.864G=	ENSP00000438424.1:p.Gln288=
ENST00000546226.5:n.1746G=
NM_000190.3:c.984G=	NP_000181.2:p.Gln328=
NM_001024382.1:c.933G=	NP_001019553.1:p.Gln311=
NM_001258208.1:c.864G=	NP_001245137.1:p.Gln288=
NM_001258209.1:c.813G=	NP_001245138.1:p.Gln271=
XM_005271531.1:c.933G=	XP_005271588.1:p.Gln311=
XM_005271532.1:c.933G=	XP_005271589.1:p.Gln311=
XM_005271533.2:c.930G=	XP_005271590.1:p.Gln310=
XM_011542796.1:c.819G=	XP_011541098.1:p.Gln273=
NM_000190.4:c.984G= MANE Select	NP_000181.2:p.Gln328=
NM_001024382.2:c.933G=	NP_001019553.1:p.Gln311=
XM_005271533.3:c.930G=	XP_005271590.1:p.Gln310=
XM_017017629.1:c.933G=	XP_016873118.1:p.Gln311=
XM_024448460.1:c.810G=	XP_024304228.1:p.Gln270=
NM_001258208.2:c.864G=	NP_001245137.1:p.Gln288=
NM_001258209.2:c.813G=	NP_001245138.1:p.Gln271=