Canonical Allele Identifier: CA382889264

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118959814C>G (hg19) ; chr11:g.119089104C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119089104C>G , CM000673.2:g.119089104C>G	GRCh38
NC_000011.9:g.118959814C>G , CM000673.1:g.118959814C>G	GRCh37
NC_000011.8:g.118465024C>G	NCBI36
NG_008093.1:g.9228C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.18C>G	ENSP00000509288.1:p.Asp6Glu
ENST00000686690.1:n.719C>G
ENST00000691144.1:n.1839C>G
ENST00000691249.1:n.767C>G
ENST00000442944.7:c.165C>G	ENSP00000392041.3:p.Asp55Glu
ENST00000534956.2:n.132C>G
ENST00000536813.6:c.132C>G	ENSP00000438726.2:p.Asp44Glu
ENST00000546302.6:c.183C>G	ENSP00000445599.1:p.Asp61Glu
ENST00000640813.1:c.132C>G	ENSP00000491061.1:p.Asp44Glu
ENST00000648026.1:c.177C>G	ENSP00000498044.1:p.Asp59Glu
ENST00000648374.1:c.132C>G	ENSP00000497255.1:p.Asp44Glu
ENST00000648488.1:c.132C>G	ENSP00000498079.1:p.Asp44Glu
ENST00000649823.1:n.400C>G
ENST00000649868.1:c.38C>G	ENSP00000497548.1:p.Thr13Arg
ENST00000650101.1:c.114C>G	ENSP00000496970.1:p.Asp38Glu
ENST00000650307.1:n.1009C>G
ENST00000652429.1:c.183C>G MANE Select	ENSP00000498786.1:p.Asp61Glu
ENST00000278715.7:c.183C>G	ENSP00000278715.3:p.Asp61Glu
ENST00000392841.1:c.132C>G	ENSP00000376584.1:p.Asp44Glu
ENST00000442944.6:c.132C>G	ENSP00000392041.2:p.Asp44Glu
ENST00000534956.1:n.99C>G
ENST00000535253.5:c.132C>G	ENSP00000442079.1:p.Asp44Glu
ENST00000535793.5:c.*78C>G	ENSP00000439904.1:n.*78C>G
ENST00000536185.5:n.329-113C>G
ENST00000536813.5:c.165C>G	ENSP00000438726.1:p.Asp55Glu
ENST00000537841.5:c.132C>G	ENSP00000444730.1:p.Asp44Glu
ENST00000539986.5:c.132C>G	ENSP00000440092.1:p.Asp44Glu
ENST00000542044.5:n.628C>G
ENST00000542345.5:n.321C>G
ENST00000542729.5:c.132C>G	ENSP00000443058.1:p.Asp44Glu
ENST00000542822.5:c.*147-113C>G	ENSP00000444817.1:n.*147-113C>G
ENST00000543090.5:c.129C>G	ENSP00000445429.1:p.Asp43Glu
ENST00000543543.5:n.418C>G
ENST00000543821.5:n.329C>G
ENST00000544360.5:n.151C>G
ENST00000544387.5:c.183C>G	ENSP00000438424.1:p.Asp61Glu
ENST00000545621.5:c.*78C>G	ENSP00000444849.1:n.*78C>G
ENST00000546226.5:n.242C>G
ENST00000546302.5:c.183C>G	ENSP00000445599.1:p.Asp61Glu
NM_000190.3:c.183C>G	NP_000181.2:p.Asp61Glu
NM_001024382.1:c.132C>G	NP_001019553.1:p.Asp44Glu
NM_001258208.1:c.183C>G	NP_001245137.1:p.Asp61Glu
NM_001258209.1:c.132C>G	NP_001245138.1:p.Asp44Glu
XM_005271531.1:c.132C>G	XP_005271588.1:p.Asp44Glu
XM_005271532.1:c.132C>G	XP_005271589.1:p.Asp44Glu
XM_005271533.2:c.129C>G	XP_005271590.1:p.Asp43Glu
XM_011542796.1:c.18C>G	XP_011541098.1:p.Asp6Glu
NM_000190.4:c.183C>G MANE Select	NP_000181.2:p.Asp61Glu
NM_001024382.2:c.132C>G	NP_001019553.1:p.Asp44Glu
XM_005271533.3:c.129C>G	XP_005271590.1:p.Asp43Glu
XM_017017629.1:c.132C>G	XP_016873118.1:p.Asp44Glu
XM_024448460.1:c.129C>G	XP_024304228.1:p.Asp43Glu
NM_001258208.2:c.183C>G	NP_001245137.1:p.Asp61Glu
NM_001258209.2:c.132C>G	NP_001245138.1:p.Asp44Glu