Canonical Allele Identifier: CA382896630

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118962838C>A (hg19) ; chr11:g.119092128C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092128C>A , CM000673.2:g.119092128C>A	GRCh38
NC_000011.9:g.118962838C>A , CM000673.1:g.118962838C>A	GRCh37
NC_000011.8:g.118468048C>A	NCBI36
NG_008093.1:g.12252C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.451C>A	ENSP00000509288.1:p.Leu151Met
ENST00000691144.1:n.2357C>A
ENST00000691249.1:n.1200C>A
ENST00000442944.7:c.598C>A	ENSP00000392041.3:p.Leu200Met
ENST00000536813.6:c.565C>A	ENSP00000438726.2:p.Leu189Met
ENST00000546302.6:c.538C>A	ENSP00000445599.1:p.Leu180Met
ENST00000640813.1:c.461+254C>A	ENSP00000491061.1:n.461+254C>A
ENST00000648026.1:c.510C>A	ENSP00000498044.1:p.Ser170=
ENST00000648374.1:c.565C>A	ENSP00000497255.1:p.Leu189Met
ENST00000648488.1:c.*89C>A	ENSP00000498079.1:n.*89C>A
ENST00000649823.1:n.833C>A
ENST00000650101.1:c.547C>A	ENSP00000496970.1:p.Leu183Met
ENST00000650307.1:n.1442C>A
ENST00000652429.1:c.616C>A MANE Select	ENSP00000498786.1:p.Leu206Met
ENST00000278715.7:c.616C>A	ENSP00000278715.3:p.Leu206Met
ENST00000392841.1:c.565C>A	ENSP00000376584.1:p.Leu189Met
ENST00000442944.6:c.565C>A	ENSP00000392041.2:p.Leu189Met
ENST00000537841.5:c.565C>A	ENSP00000444730.1:p.Leu189Met
ENST00000542044.5:n.1061C>A
ENST00000542345.5:n.754C>A
ENST00000542729.5:c.565C>A	ENSP00000443058.1:p.Leu189Met
ENST00000543090.5:c.559-276C>A	ENSP00000445429.1:n.559-276C>A
ENST00000543543.5:n.851C>A
ENST00000544182.1:n.591C>A
ENST00000544387.5:c.616C>A	ENSP00000438424.1:p.Leu206Met
ENST00000545621.5:c.*511C>A	ENSP00000444849.1:n.*511C>A
ENST00000546226.5:n.904C>A
ENST00000546302.5:c.538C>A	ENSP00000445599.1:p.Leu180Met
NM_000190.3:c.616C>A	NP_000181.2:p.Leu206Met
NM_001024382.1:c.565C>A	NP_001019553.1:p.Leu189Met
NM_001258208.1:c.616C>A	NP_001245137.1:p.Leu206Met
NM_001258209.1:c.565C>A	NP_001245138.1:p.Leu189Met
XM_005271531.1:c.565C>A	XP_005271588.1:p.Leu189Met
XM_005271532.1:c.565C>A	XP_005271589.1:p.Leu189Met
XM_005271533.2:c.562C>A	XP_005271590.1:p.Leu188Met
XM_011542796.1:c.451C>A	XP_011541098.1:p.Leu151Met
NM_000190.4:c.616C>A MANE Select	NP_000181.2:p.Leu206Met
NM_001024382.2:c.565C>A	NP_001019553.1:p.Leu189Met
XM_005271533.3:c.562C>A	XP_005271590.1:p.Leu188Met
XM_017017629.1:c.565C>A	XP_016873118.1:p.Leu189Met
XM_024448460.1:c.562C>A	XP_024304228.1:p.Leu188Met
NM_001258208.2:c.616C>A	NP_001245137.1:p.Leu206Met
NM_001258209.2:c.565C>A	NP_001245138.1:p.Leu189Met