Canonical Allele Identifier: CA382899087

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963824A>T (hg19) ; chr11:g.119093114A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093114A>T , CM000673.2:g.119093114A>T	GRCh38
NC_000011.9:g.118963824A>T , CM000673.1:g.118963824A>T	GRCh37
NC_000011.8:g.118469034A>T	NCBI36
NG_008093.1:g.13238A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.752A>T	ENSP00000509288.1:p.Glu251Val
ENST00000691144.1:n.3132A>T
ENST00000691249.1:n.1741A>T
ENST00000442944.7:c.899A>T	ENSP00000392041.3:p.Glu300Val
ENST00000640813.1:c.*154A>T	ENSP00000491061.1:n.*154A>T
ENST00000648026.1:c.811A>T	ENSP00000498044.1:n.811A>T
ENST00000648374.1:c.866A>T	ENSP00000497255.1:p.Glu289Val
ENST00000650101.1:c.848A>T	ENSP00000496970.1:p.Glu283Val
ENST00000650307.1:n.1743A>T
ENST00000652429.1:c.917A>T MANE Select	ENSP00000498786.1:p.Glu306Val
ENST00000278715.7:c.917A>T	ENSP00000278715.3:p.Glu306Val
ENST00000392841.1:c.866A>T	ENSP00000376584.1:p.Glu289Val
ENST00000442944.6:c.866A>T	ENSP00000392041.2:p.Glu289Val
ENST00000537841.5:c.866A>T	ENSP00000444730.1:p.Glu289Val
ENST00000539045.1:n.416A>T
ENST00000542044.5:n.1362A>T
ENST00000542729.5:c.746A>T	ENSP00000443058.1:p.Glu249Val
ENST00000543090.5:c.824A>T	ENSP00000445429.1:p.Glu275Val
ENST00000543543.5:n.1392A>T
ENST00000544182.1:n.1366A>T
ENST00000544387.5:c.797A>T	ENSP00000438424.1:p.Glu266Val
ENST00000546226.5:n.1679A>T
NM_000190.3:c.917A>T	NP_000181.2:p.Glu306Val
NM_001024382.1:c.866A>T	NP_001019553.1:p.Glu289Val
NM_001258208.1:c.797A>T	NP_001245137.1:p.Glu266Val
NM_001258209.1:c.746A>T	NP_001245138.1:p.Glu249Val
XM_005271531.1:c.866A>T	XP_005271588.1:p.Glu289Val
XM_005271532.1:c.866A>T	XP_005271589.1:p.Glu289Val
XM_005271533.2:c.863A>T	XP_005271590.1:p.Glu288Val
XM_011542796.1:c.752A>T	XP_011541098.1:p.Glu251Val
NM_000190.4:c.917A>T MANE Select	NP_000181.2:p.Glu306Val
NM_001024382.2:c.866A>T	NP_001019553.1:p.Glu289Val
XM_005271533.3:c.863A>T	XP_005271590.1:p.Glu288Val
XM_017017629.1:c.866A>T	XP_016873118.1:p.Glu289Val
XM_024448460.1:c.743A>T	XP_024304228.1:p.Glu248Val
NM_001258208.2:c.797A>T	NP_001245137.1:p.Glu266Val
NM_001258209.2:c.746A>T	NP_001245138.1:p.Glu249Val