Canonical Allele Identifier: CA382897869

Gene: HMBS

Linked Data

• ClinVar Variation Id: 2503176
• ClinVar RCV Id: RCV003230010
• MyVariant Identifiers: chr11:g.118963203C>G (hg19) ; chr11:g.119092493C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092493C>G , CM000673.2:g.119092493C>G	GRCh38
NC_000011.9:g.118963203C>G , CM000673.1:g.118963203C>G	GRCh37
NC_000011.8:g.118468413C>G	NCBI36
NG_008093.1:g.12617C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.576C>G	ENSP00000509288.1:p.Cys192Trp
ENST00000691144.1:n.2722C>G
ENST00000691249.1:n.1565C>G
ENST00000442944.7:c.723C>G	ENSP00000392041.3:p.Cys241Trp
ENST00000640813.1:c.551C>G	ENSP00000491061.1:p.Ala184Gly
ENST00000648026.1:c.635C>G	ENSP00000498044.1:p.Ala212Gly
ENST00000648374.1:c.690C>G	ENSP00000497255.1:p.Cys230Trp
ENST00000649823.1:n.1198C>G
ENST00000650101.1:c.672C>G	ENSP00000496970.1:p.Cys224Trp
ENST00000650307.1:n.1567C>G
ENST00000652429.1:c.741C>G MANE Select	ENSP00000498786.1:p.Cys247Trp
ENST00000278715.7:c.741C>G	ENSP00000278715.3:p.Cys247Trp
ENST00000392841.1:c.690C>G	ENSP00000376584.1:p.Cys230Trp
ENST00000442944.6:c.690C>G	ENSP00000392041.2:p.Cys230Trp
ENST00000537841.5:c.690C>G	ENSP00000444730.1:p.Cys230Trp
ENST00000542044.5:n.1186C>G
ENST00000542729.5:c.601-265C>G	ENSP00000443058.1:n.601-265C>G
ENST00000543090.5:c.648C>G	ENSP00000445429.1:p.Cys216Trp
ENST00000543543.5:n.1216C>G
ENST00000544182.1:n.956C>G
ENST00000544387.5:c.652-265C>G	ENSP00000438424.1:n.652-265C>G
ENST00000545621.5:c.*876C>G	ENSP00000444849.1:n.*876C>G
ENST00000546226.5:n.1269C>G
NM_000190.3:c.741C>G	NP_000181.2:p.Cys247Trp
NM_001024382.1:c.690C>G	NP_001019553.1:p.Cys230Trp
NM_001258208.1:c.652-265C>G	NP_001245137.1:n.652-265C>G
NM_001258209.1:c.601-265C>G	NP_001245138.1:n.601-265C>G
XM_005271531.1:c.690C>G	XP_005271588.1:p.Cys230Trp
XM_005271532.1:c.690C>G	XP_005271589.1:p.Cys230Trp
XM_005271533.2:c.687C>G	XP_005271590.1:p.Cys229Trp
XM_011542796.1:c.576C>G	XP_011541098.1:p.Cys192Trp
NM_000190.4:c.741C>G MANE Select	NP_000181.2:p.Cys247Trp
NM_001024382.2:c.690C>G	NP_001019553.1:p.Cys230Trp
XM_005271533.3:c.687C>G	XP_005271590.1:p.Cys229Trp
XM_017017629.1:c.690C>G	XP_016873118.1:p.Cys230Trp
XM_024448460.1:c.598-265C>G	XP_024304228.1:n.598-265C>G
NM_001258208.2:c.652-265C>G	NP_001245137.1:n.652-265C>G
NM_001258209.2:c.601-265C>G	NP_001245138.1:n.601-265C>G