Canonical Allele Identifier: CA382890728

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118960425T>A (hg19) ; chr11:g.119089715T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119089715T>A , CM000673.2:g.119089715T>A	GRCh38
NC_000011.9:g.118960425T>A , CM000673.1:g.118960425T>A	GRCh37
NC_000011.8:g.118465635T>A	NCBI36
NG_008093.1:g.9839T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.134T>A	ENSP00000509288.1:p.Leu45Gln
ENST00000686690.1:n.920T>A
ENST00000691144.1:n.2040T>A
ENST00000691249.1:n.883T>A
ENST00000442944.7:c.281T>A	ENSP00000392041.3:p.Leu94Gln
ENST00000534956.2:n.248T>A
ENST00000536813.6:c.248T>A	ENSP00000438726.2:p.Leu83Gln
ENST00000546302.6:c.267-275T>A	ENSP00000445599.1:n.267-275T>A
ENST00000640813.1:c.248T>A	ENSP00000491061.1:p.Leu83Gln
ENST00000648026.1:c.293T>A	ENSP00000498044.1:p.Leu98Gln
ENST00000648374.1:c.248T>A	ENSP00000497255.1:p.Leu83Gln
ENST00000648488.1:c.248T>A	ENSP00000498079.1:p.Leu83Gln
ENST00000649823.1:n.516T>A
ENST00000649868.1:c.*7T>A	ENSP00000497548.1:n.*7T>A
ENST00000650101.1:c.230T>A	ENSP00000496970.1:p.Leu77Gln
ENST00000650307.1:n.1125T>A
ENST00000652429.1:c.299T>A MANE Select	ENSP00000498786.1:p.Leu100Gln
ENST00000278715.7:c.299T>A	ENSP00000278715.3:p.Leu100Gln
ENST00000392841.1:c.248T>A	ENSP00000376584.1:p.Leu83Gln
ENST00000442944.6:c.248T>A	ENSP00000392041.2:p.Leu83Gln
ENST00000534956.1:n.215T>A
ENST00000535253.5:c.248T>A	ENSP00000442079.1:p.Leu83Gln
ENST00000535793.5:c.*194T>A	ENSP00000439904.1:n.*194T>A
ENST00000536185.5:n.417T>A
ENST00000536813.5:c.281T>A	ENSP00000438726.1:p.Leu94Gln
ENST00000537841.5:c.248T>A	ENSP00000444730.1:p.Leu83Gln
ENST00000539986.5:c.248T>A	ENSP00000440092.1:p.Leu83Gln
ENST00000542044.5:n.744T>A
ENST00000542345.5:n.437T>A
ENST00000542729.5:c.248T>A	ENSP00000443058.1:p.Leu83Gln
ENST00000542822.5:c.*235T>A	ENSP00000444817.1:n.*235T>A
ENST00000543090.5:c.245T>A	ENSP00000445429.1:p.Leu82Gln
ENST00000543543.5:n.534T>A
ENST00000543821.5:n.445T>A
ENST00000544360.5:n.267T>A
ENST00000544387.5:c.299T>A	ENSP00000438424.1:p.Leu100Gln
ENST00000545621.5:c.*194T>A	ENSP00000444849.1:n.*194T>A
ENST00000546226.5:n.358T>A
ENST00000546302.5:c.267-275T>A	ENSP00000445599.1:n.267-275T>A
NM_000190.3:c.299T>A	NP_000181.2:p.Leu100Gln
NM_001024382.1:c.248T>A	NP_001019553.1:p.Leu83Gln
NM_001258208.1:c.299T>A	NP_001245137.1:p.Leu100Gln
NM_001258209.1:c.248T>A	NP_001245138.1:p.Leu83Gln
XM_005271531.1:c.248T>A	XP_005271588.1:p.Leu83Gln
XM_005271532.1:c.248T>A	XP_005271589.1:p.Leu83Gln
XM_005271533.2:c.245T>A	XP_005271590.1:p.Leu82Gln
XM_011542796.1:c.134T>A	XP_011541098.1:p.Leu45Gln
NM_000190.4:c.299T>A MANE Select	NP_000181.2:p.Leu100Gln
NM_001024382.2:c.248T>A	NP_001019553.1:p.Leu83Gln
XM_005271533.3:c.245T>A	XP_005271590.1:p.Leu82Gln
XM_017017629.1:c.248T>A	XP_016873118.1:p.Leu83Gln
XM_024448460.1:c.245T>A	XP_024304228.1:p.Leu82Gln
NM_001258208.2:c.299T>A	NP_001245137.1:p.Leu100Gln
NM_001258209.2:c.248T>A	NP_001245138.1:p.Leu83Gln