Canonical Allele Identifier: CA382898840

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963691T>G (hg19) ; chr11:g.119092981T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092981T>G , CM000673.2:g.119092981T>G	GRCh38
NC_000011.9:g.118963691T>G , CM000673.1:g.118963691T>G	GRCh37
NC_000011.8:g.118468901T>G	NCBI36
NG_008093.1:g.13105T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.707T>G	ENSP00000509288.1:p.Ile236Arg
ENST00000691144.1:n.3087T>G
ENST00000691249.1:n.1696T>G
ENST00000442944.7:c.854T>G	ENSP00000392041.3:p.Ile285Arg
ENST00000640813.1:c.*109T>G	ENSP00000491061.1:n.*109T>G
ENST00000648026.1:c.766T>G	ENSP00000498044.1:n.766T>G
ENST00000648374.1:c.821T>G	ENSP00000497255.1:p.Ile274Arg
ENST00000650101.1:c.803T>G	ENSP00000496970.1:p.Ile268Arg
ENST00000650307.1:n.1698T>G
ENST00000652429.1:c.872T>G MANE Select	ENSP00000498786.1:p.Ile291Arg
ENST00000278715.7:c.872T>G	ENSP00000278715.3:p.Ile291Arg
ENST00000392841.1:c.821T>G	ENSP00000376584.1:p.Ile274Arg
ENST00000442944.6:c.821T>G	ENSP00000392041.2:p.Ile274Arg
ENST00000537841.5:c.821T>G	ENSP00000444730.1:p.Ile274Arg
ENST00000539045.1:n.371T>G
ENST00000542044.5:n.1317T>G
ENST00000542729.5:c.701T>G	ENSP00000443058.1:p.Ile234Arg
ENST00000543090.5:c.779T>G	ENSP00000445429.1:p.Ile260Arg
ENST00000543543.5:n.1347T>G
ENST00000544182.1:n.1321T>G
ENST00000544387.5:c.752T>G	ENSP00000438424.1:p.Ile251Arg
ENST00000546226.5:n.1634T>G
NM_000190.3:c.872T>G	NP_000181.2:p.Ile291Arg
NM_001024382.1:c.821T>G	NP_001019553.1:p.Ile274Arg
NM_001258208.1:c.752T>G	NP_001245137.1:p.Ile251Arg
NM_001258209.1:c.701T>G	NP_001245138.1:p.Ile234Arg
XM_005271531.1:c.821T>G	XP_005271588.1:p.Ile274Arg
XM_005271532.1:c.821T>G	XP_005271589.1:p.Ile274Arg
XM_005271533.2:c.818T>G	XP_005271590.1:p.Ile273Arg
XM_011542796.1:c.707T>G	XP_011541098.1:p.Ile236Arg
NM_000190.4:c.872T>G MANE Select	NP_000181.2:p.Ile291Arg
NM_001024382.2:c.821T>G	NP_001019553.1:p.Ile274Arg
XM_005271533.3:c.818T>G	XP_005271590.1:p.Ile273Arg
XM_017017629.1:c.821T>G	XP_016873118.1:p.Ile274Arg
XM_024448460.1:c.698T>G	XP_024304228.1:p.Ile233Arg
NM_001258208.2:c.752T>G	NP_001245137.1:p.Ile251Arg
NM_001258209.2:c.701T>G	NP_001245138.1:p.Ile234Arg