Canonical Allele Identifier: CA2003793446

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093226G= , CM000673.2:g.119093226G=	GRCh38
NC_000011.9:g.118963936G= , CM000673.1:g.118963936G=	GRCh37
NC_000011.8:g.118469146G=	NCBI36
NG_008093.1:g.13350G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.864G=	ENSP00000509288.1:p.Leu288=
ENST00000691144.1:n.3244G=
ENST00000691249.1:n.1853G=
ENST00000442944.7:c.1011G=	ENSP00000392041.3:p.Leu337=
ENST00000640813.1:c.*266G=	ENSP00000491061.1:n.*266G=
ENST00000648026.1:c.923G=	ENSP00000498044.1:n.923G=
ENST00000648374.1:c.978G=	ENSP00000497255.1:p.Leu326=
ENST00000650101.1:c.960G=	ENSP00000496970.1:p.Leu320=
ENST00000650307.1:n.1855G=
ENST00000652429.1:c.1029G= MANE Select	ENSP00000498786.1:p.Leu343=
ENST00000278715.7:c.1029G=	ENSP00000278715.3:p.Leu343=
ENST00000392841.1:c.978G=	ENSP00000376584.1:p.Leu326=
ENST00000442944.6:c.978G=	ENSP00000392041.2:p.Leu326=
ENST00000537841.5:c.978G=	ENSP00000444730.1:p.Leu326=
ENST00000539045.1:n.528G=
ENST00000542044.5:n.1474G=
ENST00000542729.5:c.858G=	ENSP00000443058.1:p.Leu286=
ENST00000543090.5:c.936G=	ENSP00000445429.1:p.Leu312=
ENST00000543543.5:n.1504G=
ENST00000544182.1:n.1478G=
ENST00000544387.5:c.909G=	ENSP00000438424.1:p.Leu303=
ENST00000546226.5:n.1791G=
NM_000190.3:c.1029G=	NP_000181.2:p.Leu343=
NM_001024382.1:c.978G=	NP_001019553.1:p.Leu326=
NM_001258208.1:c.909G=	NP_001245137.1:p.Leu303=
NM_001258209.1:c.858G=	NP_001245138.1:p.Leu286=
XM_005271531.1:c.978G=	XP_005271588.1:p.Leu326=
XM_005271532.1:c.978G=	XP_005271589.1:p.Leu326=
XM_005271533.2:c.975G=	XP_005271590.1:p.Leu325=
XM_011542796.1:c.864G=	XP_011541098.1:p.Leu288=
NM_000190.4:c.1029G= MANE Select	NP_000181.2:p.Leu343=
NM_001024382.2:c.978G=	NP_001019553.1:p.Leu326=
XM_005271533.3:c.975G=	XP_005271590.1:p.Leu325=
XM_017017629.1:c.978G=	XP_016873118.1:p.Leu326=
XM_024448460.1:c.855G=	XP_024304228.1:p.Leu285=
NM_001258208.2:c.909G=	NP_001245137.1:p.Leu303=
NM_001258209.2:c.858G=	NP_001245138.1:p.Leu286=