Canonical Allele Identifier: CA2003792253

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092770A= , CM000673.2:g.119092770A=	GRCh38
NC_000011.9:g.118963480A= , CM000673.1:g.118963480A=	GRCh37
NC_000011.8:g.118468690A=	NCBI36
NG_008093.1:g.12894A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.619A=	ENSP00000509288.1:p.Ser207=
ENST00000691144.1:n.2999A=
ENST00000691249.1:n.1608A=
ENST00000442944.7:c.766A=	ENSP00000392041.3:p.Ser256=
ENST00000640813.1:c.*21A=	ENSP00000491061.1:n.*21A=
ENST00000648026.1:c.678A=	ENSP00000498044.1:n.678A=
ENST00000648374.1:c.733A=	ENSP00000497255.1:p.Ser245=
ENST00000649823.1:n.1241A=
ENST00000650101.1:c.715A=	ENSP00000496970.1:p.Ser239=
ENST00000650307.1:n.1610A=
ENST00000652429.1:c.784A= MANE Select	ENSP00000498786.1:p.Ser262=
ENST00000278715.7:c.784A=	ENSP00000278715.3:p.Ser262=
ENST00000392841.1:c.733A=	ENSP00000376584.1:p.Ser245=
ENST00000442944.6:c.733A=	ENSP00000392041.2:p.Ser245=
ENST00000537841.5:c.733A=	ENSP00000444730.1:p.Ser245=
ENST00000539045.1:n.160A=
ENST00000542044.5:n.1229A=
ENST00000542729.5:c.613A=	ENSP00000443058.1:p.Ser205=
ENST00000543090.5:c.691A=	ENSP00000445429.1:p.Ser231=
ENST00000543543.5:n.1259A=
ENST00000544182.1:n.1233A=
ENST00000544387.5:c.664A=	ENSP00000438424.1:p.Ser222=
ENST00000546226.5:n.1546A=
NM_000190.3:c.784A=	NP_000181.2:p.Ser262=
NM_001024382.1:c.733A=	NP_001019553.1:p.Ser245=
NM_001258208.1:c.664A=	NP_001245137.1:p.Ser222=
NM_001258209.1:c.613A=	NP_001245138.1:p.Ser205=
XM_005271531.1:c.733A=	XP_005271588.1:p.Ser245=
XM_005271532.1:c.733A=	XP_005271589.1:p.Ser245=
XM_005271533.2:c.730A=	XP_005271590.1:p.Ser244=
XM_011542796.1:c.619A=	XP_011541098.1:p.Ser207=
NM_000190.4:c.784A= MANE Select	NP_000181.2:p.Ser262=
NM_001024382.2:c.733A=	NP_001019553.1:p.Ser245=
XM_005271533.3:c.730A=	XP_005271590.1:p.Ser244=
XM_017017629.1:c.733A=	XP_016873118.1:p.Ser245=
XM_024448460.1:c.610A=	XP_024304228.1:p.Ser204=
NM_001258208.2:c.664A=	NP_001245137.1:p.Ser222=
NM_001258209.2:c.613A=	NP_001245138.1:p.Ser205=