Canonical Allele Identifier: CA477126637

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118962867G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092157G>C , CM000673.2:g.119092157G>C	GRCh38
NC_000011.9:g.118962867G>C , CM000673.1:g.118962867G>C	GRCh37
NC_000011.8:g.118468077G>C	NCBI36
NG_008093.1:g.12281G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.480G>C	ENSP00000509288.1:p.Val160=
ENST00000691144.1:n.2386G>C
ENST00000691249.1:n.1229G>C
ENST00000442944.7:c.627G>C	ENSP00000392041.3:p.Val209=
ENST00000536813.6:c.594G>C	ENSP00000438726.2:p.Val198=
ENST00000546302.6:c.567G>C	ENSP00000445599.1:p.Val189=
ENST00000640813.1:c.462-247G>C	ENSP00000491061.1:n.462-247G>C
ENST00000648026.1:c.539G>C	ENSP00000498044.1:p.Trp180Ser
ENST00000648374.1:c.594G>C	ENSP00000497255.1:p.Val198=
ENST00000648488.1:c.*118G>C	ENSP00000498079.1:n.*118G>C
ENST00000649823.1:n.862G>C
ENST00000650101.1:c.576G>C	ENSP00000496970.1:p.Val192=
ENST00000650307.1:n.1471G>C
ENST00000652429.1:c.645G>C MANE Select	ENSP00000498786.1:p.Val215=
ENST00000278715.7:c.645G>C	ENSP00000278715.3:p.Val215=
ENST00000392841.1:c.594G>C	ENSP00000376584.1:p.Val198=
ENST00000442944.6:c.594G>C	ENSP00000392041.2:p.Val198=
ENST00000537841.5:c.594G>C	ENSP00000444730.1:p.Val198=
ENST00000542044.5:n.1090G>C
ENST00000542345.5:n.783G>C
ENST00000542729.5:c.594G>C	ENSP00000443058.1:p.Val198=
ENST00000543090.5:c.559-247G>C	ENSP00000445429.1:n.559-247G>C
ENST00000543543.5:n.880G>C
ENST00000544182.1:n.620G>C
ENST00000544387.5:c.645G>C	ENSP00000438424.1:p.Val215=
ENST00000545621.5:c.*540G>C	ENSP00000444849.1:n.*540G>C
ENST00000546226.5:n.933G>C
ENST00000546302.5:c.567G>C	ENSP00000445599.1:p.Val189=
NM_000190.3:c.645G>C	NP_000181.2:p.Val215=
NM_001024382.1:c.594G>C	NP_001019553.1:p.Val198=
NM_001258208.1:c.645G>C	NP_001245137.1:p.Val215=
NM_001258209.1:c.594G>C	NP_001245138.1:p.Val198=
XM_005271531.1:c.594G>C	XP_005271588.1:p.Val198=
XM_005271532.1:c.594G>C	XP_005271589.1:p.Val198=
XM_005271533.2:c.591G>C	XP_005271590.1:p.Val197=
XM_011542796.1:c.480G>C	XP_011541098.1:p.Val160=
NM_000190.4:c.645G>C MANE Select	NP_000181.2:p.Val215=
NM_001024382.2:c.594G>C	NP_001019553.1:p.Val198=
XM_005271533.3:c.591G>C	XP_005271590.1:p.Val197=
XM_017017629.1:c.594G>C	XP_016873118.1:p.Val198=
XM_024448460.1:c.591G>C	XP_024304228.1:p.Val197=
NM_001258208.2:c.645G>C	NP_001245137.1:p.Val215=
NM_001258209.2:c.594G>C	NP_001245138.1:p.Val198=