Canonical Allele Identifier: CA382890925

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118960443C>G (hg19) ; chr11:g.119089733C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119089733C>G , CM000673.2:g.119089733C>G	GRCh38
NC_000011.9:g.118960443C>G , CM000673.1:g.118960443C>G	GRCh37
NC_000011.8:g.118465653C>G	NCBI36
NG_008093.1:g.9857C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.152C>G	ENSP00000509288.1:p.Pro51Arg
ENST00000686690.1:n.938C>G
ENST00000691144.1:n.2058C>G
ENST00000691249.1:n.901C>G
ENST00000442944.7:c.299C>G	ENSP00000392041.3:p.Pro100Arg
ENST00000534956.2:n.266C>G
ENST00000536813.6:c.266C>G	ENSP00000438726.2:p.Pro89Arg
ENST00000546302.6:c.267-257C>G	ENSP00000445599.1:n.267-257C>G
ENST00000640813.1:c.266C>G	ENSP00000491061.1:p.Pro89Arg
ENST00000648026.1:c.311C>G	ENSP00000498044.1:p.Pro104Arg
ENST00000648374.1:c.266C>G	ENSP00000497255.1:p.Pro89Arg
ENST00000648488.1:c.266C>G	ENSP00000498079.1:p.Pro89Arg
ENST00000649823.1:n.534C>G
ENST00000649868.1:c.*25C>G	ENSP00000497548.1:n.*25C>G
ENST00000650101.1:c.248C>G	ENSP00000496970.1:p.Pro83Arg
ENST00000650307.1:n.1143C>G
ENST00000652429.1:c.317C>G MANE Select	ENSP00000498786.1:p.Pro106Arg
ENST00000278715.7:c.317C>G	ENSP00000278715.3:p.Pro106Arg
ENST00000392841.1:c.266C>G	ENSP00000376584.1:p.Pro89Arg
ENST00000442944.6:c.266C>G	ENSP00000392041.2:p.Pro89Arg
ENST00000534956.1:n.233C>G
ENST00000535253.5:c.266C>G	ENSP00000442079.1:p.Pro89Arg
ENST00000535793.5:c.*212C>G	ENSP00000439904.1:n.*212C>G
ENST00000536185.5:n.435C>G
ENST00000536813.5:c.299C>G	ENSP00000438726.1:p.Pro100Arg
ENST00000537841.5:c.266C>G	ENSP00000444730.1:p.Pro89Arg
ENST00000539986.5:c.266C>G	ENSP00000440092.1:p.Pro89Arg
ENST00000542044.5:n.762C>G
ENST00000542345.5:n.455C>G
ENST00000542729.5:c.266C>G	ENSP00000443058.1:p.Pro89Arg
ENST00000542822.5:c.*253C>G	ENSP00000444817.1:n.*253C>G
ENST00000543090.5:c.263C>G	ENSP00000445429.1:p.Pro88Arg
ENST00000543543.5:n.552C>G
ENST00000543821.5:n.463C>G
ENST00000544360.5:n.285C>G
ENST00000544387.5:c.317C>G	ENSP00000438424.1:p.Pro106Arg
ENST00000545621.5:c.*212C>G	ENSP00000444849.1:n.*212C>G
ENST00000546226.5:n.376C>G
ENST00000546302.5:c.267-257C>G	ENSP00000445599.1:n.267-257C>G
NM_000190.3:c.317C>G	NP_000181.2:p.Pro106Arg
NM_001024382.1:c.266C>G	NP_001019553.1:p.Pro89Arg
NM_001258208.1:c.317C>G	NP_001245137.1:p.Pro106Arg
NM_001258209.1:c.266C>G	NP_001245138.1:p.Pro89Arg
XM_005271531.1:c.266C>G	XP_005271588.1:p.Pro89Arg
XM_005271532.1:c.266C>G	XP_005271589.1:p.Pro89Arg
XM_005271533.2:c.263C>G	XP_005271590.1:p.Pro88Arg
XM_011542796.1:c.152C>G	XP_011541098.1:p.Pro51Arg
NM_000190.4:c.317C>G MANE Select	NP_000181.2:p.Pro106Arg
NM_001024382.2:c.266C>G	NP_001019553.1:p.Pro89Arg
XM_005271533.3:c.263C>G	XP_005271590.1:p.Pro88Arg
XM_017017629.1:c.266C>G	XP_016873118.1:p.Pro89Arg
XM_024448460.1:c.263C>G	XP_024304228.1:p.Pro88Arg
NM_001258208.2:c.317C>G	NP_001245137.1:p.Pro106Arg
NM_001258209.2:c.266C>G	NP_001245138.1:p.Pro89Arg