Canonical Allele Identifier: CA382888488

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118959388C>A (hg19) ; chr11:g.119088678C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119088678C>A , CM000673.2:g.119088678C>A	GRCh38
NC_000011.9:g.118959388C>A , CM000673.1:g.118959388C>A	GRCh37
NC_000011.8:g.118464598C>A	NCBI36
NG_008093.1:g.8802C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.-35C>A	ENSP00000509288.1:n.-35C>A
ENST00000686690.1:n.293C>A
ENST00000691144.1:n.1413C>A
ENST00000691249.1:n.715C>A
ENST00000442944.7:c.131C>A	ENSP00000392041.3:p.Ala44Asp
ENST00000534956.2:n.80C>A
ENST00000536813.6:c.80C>A	ENSP00000438726.2:p.Ala27Asp
ENST00000546302.6:c.131C>A	ENSP00000445599.1:p.Ala44Asp
ENST00000640813.1:c.80C>A	ENSP00000491061.1:p.Ala27Asp
ENST00000648026.1:c.125C>A	ENSP00000498044.1:p.Ala42Asp
ENST00000648374.1:c.80C>A	ENSP00000497255.1:p.Ala27Asp
ENST00000648488.1:c.80C>A	ENSP00000498079.1:p.Ala27Asp
ENST00000649823.1:n.348C>A
ENST00000649868.1:c.34-422C>A	ENSP00000497548.1:n.34-422C>A
ENST00000650101.1:c.80C>A	ENSP00000496970.1:p.Ala27Asp
ENST00000650307.1:n.583C>A
ENST00000652429.1:c.131C>A MANE Select	ENSP00000498786.1:p.Ala44Asp
ENST00000278715.7:c.131C>A	ENSP00000278715.3:p.Ala44Asp
ENST00000392841.1:c.80C>A	ENSP00000376584.1:p.Ala27Asp
ENST00000442944.6:c.80C>A	ENSP00000392041.2:p.Ala27Asp
ENST00000534956.1:n.47C>A
ENST00000535253.5:c.80C>A	ENSP00000442079.1:p.Ala27Asp
ENST00000535793.5:c.77C>A	ENSP00000439904.1:p.Ala26Asp
ENST00000536185.5:n.299C>A
ENST00000536813.5:c.131C>A	ENSP00000438726.1:p.Ala44Asp
ENST00000537841.5:c.80C>A	ENSP00000444730.1:p.Ala27Asp
ENST00000539986.5:c.80C>A	ENSP00000440092.1:p.Ala27Asp
ENST00000542044.5:n.202C>A
ENST00000542345.5:n.269C>A
ENST00000542729.5:c.80C>A	ENSP00000443058.1:p.Ala27Asp
ENST00000542822.5:c.222C>A	ENSP00000444817.1:p.Ser74Arg
ENST00000543090.5:c.77C>A	ENSP00000445429.1:p.Ala26Asp
ENST00000543543.5:n.366C>A
ENST00000543821.5:n.277C>A
ENST00000544360.5:n.99C>A
ENST00000544387.5:c.131C>A	ENSP00000438424.1:p.Ala44Asp
ENST00000545621.5:c.131C>A	ENSP00000444849.1:p.Ala44Asp
ENST00000545901.5:n.284C>A
ENST00000546226.5:n.190C>A
ENST00000546302.5:c.131C>A	ENSP00000445599.1:p.Ala44Asp
NM_000190.3:c.131C>A	NP_000181.2:p.Ala44Asp
NM_001024382.1:c.80C>A	NP_001019553.1:p.Ala27Asp
NM_001258208.1:c.131C>A	NP_001245137.1:p.Ala44Asp
NM_001258209.1:c.80C>A	NP_001245138.1:p.Ala27Asp
XM_005271531.1:c.80C>A	XP_005271588.1:p.Ala27Asp
XM_005271532.1:c.80C>A	XP_005271589.1:p.Ala27Asp
XM_005271533.2:c.77C>A	XP_005271590.1:p.Ala26Asp
XM_011542796.1:c.-35C>A	XP_011541098.1:n.-35C>A
NM_000190.4:c.131C>A MANE Select	NP_000181.2:p.Ala44Asp
NM_001024382.2:c.80C>A	NP_001019553.1:p.Ala27Asp
XM_005271533.3:c.77C>A	XP_005271590.1:p.Ala26Asp
XM_017017629.1:c.80C>A	XP_016873118.1:p.Ala27Asp
XM_024448460.1:c.77C>A	XP_024304228.1:p.Ala26Asp
NM_001258208.2:c.131C>A	NP_001245137.1:p.Ala44Asp
NM_001258209.2:c.80C>A	NP_001245138.1:p.Ala27Asp