Canonical Allele Identifier: CA251824

Gene: HMBS

Linked Data

• ClinVar Variation Id: 1466
• ClinVar RCV Id: RCV000001531 ; RCV000795368
• dbSNP Id: rs118204108
• MyVariant Identifiers: chr11:g.118962154T>G (hg19) ; chr11:g.119091444T>G (hg38)
• PubMed: PMID:1427766

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119091444T>G , CM000673.2:g.119091444T>G	GRCh38
NC_000011.9:g.118962154T>G , CM000673.1:g.118962154T>G	GRCh37
NC_000011.8:g.118467364T>G	NCBI36
NG_008093.1:g.11568T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.365T>G	ENSP00000509288.1:p.Leu122Arg
ENST00000686690.1:n.1380T>G
ENST00000691144.1:n.2271T>G
ENST00000691249.1:n.1114T>G
ENST00000442944.7:c.512T>G	ENSP00000392041.3:p.Leu171Arg
ENST00000534956.2:n.448-417T>G
ENST00000536813.6:c.479T>G	ENSP00000438726.2:p.Leu160Arg
ENST00000546302.6:c.452T>G	ENSP00000445599.1:p.Leu151Arg
ENST00000640813.1:c.448-417T>G	ENSP00000491061.1:n.448-417T>G
ENST00000648026.1:c.493-417T>G	ENSP00000498044.1:n.493-417T>G
ENST00000648374.1:c.479T>G	ENSP00000497255.1:p.Leu160Arg
ENST00000648488.1:c.*85+188T>G	ENSP00000498079.1:n.*85+188T>G
ENST00000649823.1:n.747T>G
ENST00000649868.1:c.*207-417T>G	ENSP00000497548.1:n.*207-417T>G
ENST00000650101.1:c.461T>G	ENSP00000496970.1:p.Leu154Arg
ENST00000650307.1:n.1356T>G
ENST00000652429.1:c.530T>G MANE Select	ENSP00000498786.1:p.Leu177Arg
ENST00000278715.7:c.530T>G	ENSP00000278715.3:p.Leu177Arg
ENST00000392841.1:c.479T>G	ENSP00000376584.1:p.Leu160Arg
ENST00000442944.6:c.479T>G	ENSP00000392041.2:p.Leu160Arg
ENST00000534956.1:n.415-417T>G
ENST00000535253.5:c.479T>G	ENSP00000442079.1:p.Leu160Arg
ENST00000535793.5:c.*425T>G	ENSP00000439904.1:n.*425T>G
ENST00000537841.5:c.479T>G	ENSP00000444730.1:p.Leu160Arg
ENST00000539986.5:c.479T>G	ENSP00000440092.1:p.Leu160Arg
ENST00000542044.5:n.975T>G
ENST00000542345.5:n.668T>G
ENST00000542729.5:c.479T>G	ENSP00000443058.1:p.Leu160Arg
ENST00000542822.5:c.*466T>G	ENSP00000444817.1:n.*466T>G
ENST00000543090.5:c.476T>G	ENSP00000445429.1:p.Leu159Arg
ENST00000543543.5:n.765T>G
ENST00000544360.5:n.498T>G
ENST00000544387.5:c.530T>G	ENSP00000438424.1:p.Leu177Arg
ENST00000545621.5:c.*425T>G	ENSP00000444849.1:n.*425T>G
ENST00000546226.5:n.818T>G
ENST00000546302.5:c.452T>G	ENSP00000445599.1:p.Leu151Arg
NM_000190.3:c.530T>G	NP_000181.2:p.Leu177Arg
NM_001024382.1:c.479T>G	NP_001019553.1:p.Leu160Arg
NM_001258208.1:c.530T>G	NP_001245137.1:p.Leu177Arg
NM_001258209.1:c.479T>G	NP_001245138.1:p.Leu160Arg
XM_005271531.1:c.479T>G	XP_005271588.1:p.Leu160Arg
XM_005271532.1:c.479T>G	XP_005271589.1:p.Leu160Arg
XM_005271533.2:c.476T>G	XP_005271590.1:p.Leu159Arg
XM_011542796.1:c.365T>G	XP_011541098.1:p.Leu122Arg
NM_000190.4:c.530T>G MANE Select	NP_000181.2:p.Leu177Arg
NM_001024382.2:c.479T>G	NP_001019553.1:p.Leu160Arg
XM_005271533.3:c.476T>G	XP_005271590.1:p.Leu159Arg
XM_017017629.1:c.479T>G	XP_016873118.1:p.Leu160Arg
XM_024448460.1:c.476T>G	XP_024304228.1:p.Leu159Arg
NM_001258208.2:c.530T>G	NP_001245137.1:p.Leu177Arg
NM_001258209.2:c.479T>G	NP_001245138.1:p.Leu160Arg