Canonical Allele Identifier: CA382897344

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963145A>G (hg19) ; chr11:g.119092435A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092435A>G , CM000673.2:g.119092435A>G	GRCh38
NC_000011.9:g.118963145A>G , CM000673.1:g.118963145A>G	GRCh37
NC_000011.8:g.118468355A>G	NCBI36
NG_008093.1:g.12559A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.518A>G	ENSP00000509288.1:p.Asp173Gly
ENST00000691144.1:n.2664A>G
ENST00000691249.1:n.1507A>G
ENST00000442944.7:c.665A>G	ENSP00000392041.3:p.Asp222Gly
ENST00000536813.6:c.632A>G	ENSP00000438726.2:p.Asp211Gly
ENST00000640813.1:c.493A>G	ENSP00000491061.1:p.Thr165Ala
ENST00000648026.1:c.577A>G	ENSP00000498044.1:p.Thr193Ala
ENST00000648374.1:c.632A>G	ENSP00000497255.1:p.Asp211Gly
ENST00000649823.1:n.1140A>G
ENST00000650101.1:c.614A>G	ENSP00000496970.1:p.Asp205Gly
ENST00000650307.1:n.1509A>G
ENST00000652429.1:c.683A>G MANE Select	ENSP00000498786.1:p.Asp228Gly
ENST00000278715.7:c.683A>G	ENSP00000278715.3:p.Asp228Gly
ENST00000392841.1:c.632A>G	ENSP00000376584.1:p.Asp211Gly
ENST00000442944.6:c.632A>G	ENSP00000392041.2:p.Asp211Gly
ENST00000537841.5:c.632A>G	ENSP00000444730.1:p.Asp211Gly
ENST00000542044.5:n.1128A>G
ENST00000542729.5:c.600+272A>G	ENSP00000443058.1:n.600+272A>G
ENST00000543090.5:c.590A>G	ENSP00000445429.1:p.Asp197Gly
ENST00000543543.5:n.1158A>G
ENST00000544182.1:n.898A>G
ENST00000544387.5:c.651+272A>G	ENSP00000438424.1:n.651+272A>G
ENST00000545621.5:c.*818A>G	ENSP00000444849.1:n.*818A>G
ENST00000546226.5:n.1211A>G
NM_000190.3:c.683A>G	NP_000181.2:p.Asp228Gly
NM_001024382.1:c.632A>G	NP_001019553.1:p.Asp211Gly
NM_001258208.1:c.651+272A>G	NP_001245137.1:n.651+272A>G
NM_001258209.1:c.600+272A>G	NP_001245138.1:n.600+272A>G
XM_005271531.1:c.632A>G	XP_005271588.1:p.Asp211Gly
XM_005271532.1:c.632A>G	XP_005271589.1:p.Asp211Gly
XM_005271533.2:c.629A>G	XP_005271590.1:p.Asp210Gly
XM_011542796.1:c.518A>G	XP_011541098.1:p.Asp173Gly
NM_000190.4:c.683A>G MANE Select	NP_000181.2:p.Asp228Gly
NM_001024382.2:c.632A>G	NP_001019553.1:p.Asp211Gly
XM_005271533.3:c.629A>G	XP_005271590.1:p.Asp210Gly
XM_017017629.1:c.632A>G	XP_016873118.1:p.Asp211Gly
XM_024448460.1:c.597+272A>G	XP_024304228.1:n.597+272A>G
NM_001258208.2:c.651+272A>G	NP_001245137.1:n.651+272A>G
NM_001258209.2:c.600+272A>G	NP_001245138.1:n.600+272A>G