Canonical Allele Identifier: CA382897682

Gene: HMBS

Linked Data

• ClinVar Variation Id: 639190
• ClinVar RCV Id: RCV000791929
• dbSNP Id: rs1592219658
• MyVariant Identifiers: chr11:g.118963181A>G (hg19) ; chr11:g.119092471A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092471A>G , CM000673.2:g.119092471A>G	GRCh38
NC_000011.9:g.118963181A>G , CM000673.1:g.118963181A>G	GRCh37
NC_000011.8:g.118468391A>G	NCBI36
NG_008093.1:g.12595A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.554A>G	ENSP00000509288.1:p.Asp185Gly
ENST00000691144.1:n.2700A>G
ENST00000691249.1:n.1543A>G
ENST00000442944.7:c.701A>G	ENSP00000392041.3:p.Asp234Gly
ENST00000536813.6:c.668A>G	ENSP00000438726.2:p.Asp223Gly
ENST00000640813.1:c.529A>G	ENSP00000491061.1:p.Ile177Val
ENST00000648026.1:c.613A>G	ENSP00000498044.1:p.Ile205Val
ENST00000648374.1:c.668A>G	ENSP00000497255.1:p.Asp223Gly
ENST00000649823.1:n.1176A>G
ENST00000650101.1:c.650A>G	ENSP00000496970.1:p.Asp217Gly
ENST00000650307.1:n.1545A>G
ENST00000652429.1:c.719A>G MANE Select	ENSP00000498786.1:p.Asp240Gly
ENST00000278715.7:c.719A>G	ENSP00000278715.3:p.Asp240Gly
ENST00000392841.1:c.668A>G	ENSP00000376584.1:p.Asp223Gly
ENST00000442944.6:c.668A>G	ENSP00000392041.2:p.Asp223Gly
ENST00000537841.5:c.668A>G	ENSP00000444730.1:p.Asp223Gly
ENST00000542044.5:n.1164A>G
ENST00000542729.5:c.601-287A>G	ENSP00000443058.1:n.601-287A>G
ENST00000543090.5:c.626A>G	ENSP00000445429.1:p.Asp209Gly
ENST00000543543.5:n.1194A>G
ENST00000544182.1:n.934A>G
ENST00000544387.5:c.652-287A>G	ENSP00000438424.1:n.652-287A>G
ENST00000545621.5:c.*854A>G	ENSP00000444849.1:n.*854A>G
ENST00000546226.5:n.1247A>G
NM_000190.3:c.719A>G	NP_000181.2:p.Asp240Gly
NM_001024382.1:c.668A>G	NP_001019553.1:p.Asp223Gly
NM_001258208.1:c.652-287A>G	NP_001245137.1:n.652-287A>G
NM_001258209.1:c.601-287A>G	NP_001245138.1:n.601-287A>G
XM_005271531.1:c.668A>G	XP_005271588.1:p.Asp223Gly
XM_005271532.1:c.668A>G	XP_005271589.1:p.Asp223Gly
XM_005271533.2:c.665A>G	XP_005271590.1:p.Asp222Gly
XM_011542796.1:c.554A>G	XP_011541098.1:p.Asp185Gly
NM_000190.4:c.719A>G MANE Select	NP_000181.2:p.Asp240Gly
NM_001024382.2:c.668A>G	NP_001019553.1:p.Asp223Gly
XM_005271533.3:c.665A>G	XP_005271590.1:p.Asp222Gly
XM_017017629.1:c.668A>G	XP_016873118.1:p.Asp223Gly
XM_024448460.1:c.598-287A>G	XP_024304228.1:n.598-287A>G
NM_001258208.2:c.652-287A>G	NP_001245137.1:n.652-287A>G
NM_001258209.2:c.601-287A>G	NP_001245138.1:n.601-287A>G