Canonical Allele Identifier: CA477125531

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118960755C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119090045C>T , CM000673.2:g.119090045C>T	GRCh38
NC_000011.9:g.118960755C>T , CM000673.1:g.118960755C>T	GRCh37
NC_000011.8:g.118465965C>T	NCBI36
NG_008093.1:g.10169C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.235C>T	ENSP00000509288.1:p.Leu79=
ENST00000686690.1:n.1250C>T
ENST00000691144.1:n.2141C>T
ENST00000691249.1:n.984C>T
ENST00000442944.7:c.382C>T	ENSP00000392041.3:p.Leu128=
ENST00000534956.2:n.349C>T
ENST00000536813.6:c.349C>T	ENSP00000438726.2:p.Leu117=
ENST00000546302.6:c.322C>T	ENSP00000445599.1:p.Leu108=
ENST00000640813.1:c.349C>T	ENSP00000491061.1:p.Leu117=
ENST00000648026.1:c.394C>T	ENSP00000498044.1:p.Leu132=
ENST00000648374.1:c.349C>T	ENSP00000497255.1:p.Leu117=
ENST00000648488.1:c.349C>T	ENSP00000498079.1:p.Leu117=
ENST00000649823.1:n.617C>T
ENST00000649868.1:c.*108C>T	ENSP00000497548.1:n.*108C>T
ENST00000650101.1:c.331C>T	ENSP00000496970.1:p.Leu111=
ENST00000650307.1:n.1226C>T
ENST00000652429.1:c.400C>T MANE Select	ENSP00000498786.1:p.Leu134=
ENST00000278715.7:c.400C>T	ENSP00000278715.3:p.Leu134=
ENST00000392841.1:c.349C>T	ENSP00000376584.1:p.Leu117=
ENST00000442944.6:c.349C>T	ENSP00000392041.2:p.Leu117=
ENST00000534956.1:n.316C>T
ENST00000535253.5:c.349C>T	ENSP00000442079.1:p.Leu117=
ENST00000535793.5:c.*295C>T	ENSP00000439904.1:n.*295C>T
ENST00000537841.5:c.349C>T	ENSP00000444730.1:p.Leu117=
ENST00000539986.5:c.349C>T	ENSP00000440092.1:p.Leu117=
ENST00000542044.5:n.845C>T
ENST00000542345.5:n.538C>T
ENST00000542729.5:c.349C>T	ENSP00000443058.1:p.Leu117=
ENST00000542822.5:c.*336C>T	ENSP00000444817.1:n.*336C>T
ENST00000543090.5:c.346C>T	ENSP00000445429.1:p.Leu116=
ENST00000543543.5:n.635C>T
ENST00000543821.5:n.561C>T
ENST00000544360.5:n.368C>T
ENST00000544387.5:c.400C>T	ENSP00000438424.1:p.Leu134=
ENST00000545621.5:c.*295C>T	ENSP00000444849.1:n.*295C>T
ENST00000546226.5:n.688C>T
ENST00000546302.5:c.322C>T	ENSP00000445599.1:p.Leu108=
NM_000190.3:c.400C>T	NP_000181.2:p.Leu134=
NM_001024382.1:c.349C>T	NP_001019553.1:p.Leu117=
NM_001258208.1:c.400C>T	NP_001245137.1:p.Leu134=
NM_001258209.1:c.349C>T	NP_001245138.1:p.Leu117=
XM_005271531.1:c.349C>T	XP_005271588.1:p.Leu117=
XM_005271532.1:c.349C>T	XP_005271589.1:p.Leu117=
XM_005271533.2:c.346C>T	XP_005271590.1:p.Leu116=
XM_011542796.1:c.235C>T	XP_011541098.1:p.Leu79=
NM_000190.4:c.400C>T MANE Select	NP_000181.2:p.Leu134=
NM_001024382.2:c.349C>T	NP_001019553.1:p.Leu117=
XM_005271533.3:c.346C>T	XP_005271590.1:p.Leu116=
XM_017017629.1:c.349C>T	XP_016873118.1:p.Leu117=
XM_024448460.1:c.346C>T	XP_024304228.1:p.Leu116=
NM_001258208.2:c.400C>T	NP_001245137.1:p.Leu134=
NM_001258209.2:c.349C>T	NP_001245138.1:p.Leu117=