Canonical Allele Identifier: CA477125631

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118960924A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119090214A>C , CM000673.2:g.119090214A>C	GRCh38
NC_000011.9:g.118960924A>C , CM000673.1:g.118960924A>C	GRCh37
NC_000011.8:g.118466134A>C	NCBI36
NG_008093.1:g.10338A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.282A>C	ENSP00000509288.1:p.Arg94=
ENST00000686690.1:n.1297A>C
ENST00000691144.1:n.2188A>C
ENST00000691249.1:n.1031A>C
ENST00000442944.7:c.429A>C	ENSP00000392041.3:p.Arg143=
ENST00000534956.2:n.396A>C
ENST00000536813.6:c.396A>C	ENSP00000438726.2:p.Arg132=
ENST00000546302.6:c.369A>C	ENSP00000445599.1:p.Arg123=
ENST00000640813.1:c.396A>C	ENSP00000491061.1:p.Arg132=
ENST00000648026.1:c.441A>C	ENSP00000498044.1:p.Arg147=
ENST00000648374.1:c.396A>C	ENSP00000497255.1:p.Arg132=
ENST00000648488.1:c.396A>C	ENSP00000498079.1:p.Arg132=
ENST00000649823.1:n.664A>C
ENST00000649868.1:c.*155A>C	ENSP00000497548.1:n.*155A>C
ENST00000650101.1:c.378A>C	ENSP00000496970.1:p.Arg126=
ENST00000650307.1:n.1273A>C
ENST00000652429.1:c.447A>C MANE Select	ENSP00000498786.1:p.Arg149=
ENST00000278715.7:c.447A>C	ENSP00000278715.3:p.Arg149=
ENST00000392841.1:c.396A>C	ENSP00000376584.1:p.Arg132=
ENST00000442944.6:c.396A>C	ENSP00000392041.2:p.Arg132=
ENST00000534956.1:n.363A>C
ENST00000535253.5:c.396A>C	ENSP00000442079.1:p.Arg132=
ENST00000535793.5:c.*342A>C	ENSP00000439904.1:n.*342A>C
ENST00000537841.5:c.396A>C	ENSP00000444730.1:p.Arg132=
ENST00000539986.5:c.396A>C	ENSP00000440092.1:p.Arg132=
ENST00000542044.5:n.892A>C
ENST00000542345.5:n.585A>C
ENST00000542729.5:c.396A>C	ENSP00000443058.1:p.Arg132=
ENST00000542822.5:c.*383A>C	ENSP00000444817.1:n.*383A>C
ENST00000543090.5:c.393A>C	ENSP00000445429.1:p.Arg131=
ENST00000543543.5:n.682A>C
ENST00000544360.5:n.415A>C
ENST00000544387.5:c.447A>C	ENSP00000438424.1:p.Arg149=
ENST00000545621.5:c.*342A>C	ENSP00000444849.1:n.*342A>C
ENST00000546226.5:n.735A>C
ENST00000546302.5:c.369A>C	ENSP00000445599.1:p.Arg123=
NM_000190.3:c.447A>C	NP_000181.2:p.Arg149=
NM_001024382.1:c.396A>C	NP_001019553.1:p.Arg132=
NM_001258208.1:c.447A>C	NP_001245137.1:p.Arg149=
NM_001258209.1:c.396A>C	NP_001245138.1:p.Arg132=
XM_005271531.1:c.396A>C	XP_005271588.1:p.Arg132=
XM_005271532.1:c.396A>C	XP_005271589.1:p.Arg132=
XM_005271533.2:c.393A>C	XP_005271590.1:p.Arg131=
XM_011542796.1:c.282A>C	XP_011541098.1:p.Arg94=
NM_000190.4:c.447A>C MANE Select	NP_000181.2:p.Arg149=
NM_001024382.2:c.396A>C	NP_001019553.1:p.Arg132=
XM_005271533.3:c.393A>C	XP_005271590.1:p.Arg131=
XM_017017629.1:c.396A>C	XP_016873118.1:p.Arg132=
XM_024448460.1:c.393A>C	XP_024304228.1:p.Arg131=
NM_001258208.2:c.447A>C	NP_001245137.1:p.Arg149=
NM_001258209.2:c.396A>C	NP_001245138.1:p.Arg132=