Canonical Allele Identifier: CA382890726

Gene: HMBS

Linked Data

• gnomAD v4: 11-119089714-C-G
• MyVariant Identifiers: chr11:g.118960424C>G (hg19) ; chr11:g.119089714C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119089714C>G , CM000673.2:g.119089714C>G	GRCh38
NC_000011.9:g.118960424C>G , CM000673.1:g.118960424C>G	GRCh37
NC_000011.8:g.118465634C>G	NCBI36
NG_008093.1:g.9838C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.133C>G	ENSP00000509288.1:p.Leu45Val
ENST00000686690.1:n.919C>G
ENST00000691144.1:n.2039C>G
ENST00000691249.1:n.882C>G
ENST00000442944.7:c.280C>G	ENSP00000392041.3:p.Leu94Val
ENST00000534956.2:n.247C>G
ENST00000536813.6:c.247C>G	ENSP00000438726.2:p.Leu83Val
ENST00000546302.6:c.267-276C>G	ENSP00000445599.1:n.267-276C>G
ENST00000640813.1:c.247C>G	ENSP00000491061.1:p.Leu83Val
ENST00000648026.1:c.292C>G	ENSP00000498044.1:p.Leu98Val
ENST00000648374.1:c.247C>G	ENSP00000497255.1:p.Leu83Val
ENST00000648488.1:c.247C>G	ENSP00000498079.1:p.Leu83Val
ENST00000649823.1:n.515C>G
ENST00000649868.1:c.*6C>G	ENSP00000497548.1:n.*6C>G
ENST00000650101.1:c.229C>G	ENSP00000496970.1:p.Leu77Val
ENST00000650307.1:n.1124C>G
ENST00000652429.1:c.298C>G MANE Select	ENSP00000498786.1:p.Leu100Val
ENST00000278715.7:c.298C>G	ENSP00000278715.3:p.Leu100Val
ENST00000392841.1:c.247C>G	ENSP00000376584.1:p.Leu83Val
ENST00000442944.6:c.247C>G	ENSP00000392041.2:p.Leu83Val
ENST00000534956.1:n.214C>G
ENST00000535253.5:c.247C>G	ENSP00000442079.1:p.Leu83Val
ENST00000535793.5:c.*193C>G	ENSP00000439904.1:n.*193C>G
ENST00000536185.5:n.416C>G
ENST00000536813.5:c.280C>G	ENSP00000438726.1:p.Leu94Val
ENST00000537841.5:c.247C>G	ENSP00000444730.1:p.Leu83Val
ENST00000539986.5:c.247C>G	ENSP00000440092.1:p.Leu83Val
ENST00000542044.5:n.743C>G
ENST00000542345.5:n.436C>G
ENST00000542729.5:c.247C>G	ENSP00000443058.1:p.Leu83Val
ENST00000542822.5:c.*234C>G	ENSP00000444817.1:n.*234C>G
ENST00000543090.5:c.244C>G	ENSP00000445429.1:p.Leu82Val
ENST00000543543.5:n.533C>G
ENST00000543821.5:n.444C>G
ENST00000544360.5:n.266C>G
ENST00000544387.5:c.298C>G	ENSP00000438424.1:p.Leu100Val
ENST00000545621.5:c.*193C>G	ENSP00000444849.1:n.*193C>G
ENST00000546226.5:n.357C>G
ENST00000546302.5:c.267-276C>G	ENSP00000445599.1:n.267-276C>G
NM_000190.3:c.298C>G	NP_000181.2:p.Leu100Val
NM_001024382.1:c.247C>G	NP_001019553.1:p.Leu83Val
NM_001258208.1:c.298C>G	NP_001245137.1:p.Leu100Val
NM_001258209.1:c.247C>G	NP_001245138.1:p.Leu83Val
XM_005271531.1:c.247C>G	XP_005271588.1:p.Leu83Val
XM_005271532.1:c.247C>G	XP_005271589.1:p.Leu83Val
XM_005271533.2:c.244C>G	XP_005271590.1:p.Leu82Val
XM_011542796.1:c.133C>G	XP_011541098.1:p.Leu45Val
NM_000190.4:c.298C>G MANE Select	NP_000181.2:p.Leu100Val
NM_001024382.2:c.247C>G	NP_001019553.1:p.Leu83Val
XM_005271533.3:c.244C>G	XP_005271590.1:p.Leu82Val
XM_017017629.1:c.247C>G	XP_016873118.1:p.Leu83Val
XM_024448460.1:c.244C>G	XP_024304228.1:p.Leu82Val
NM_001258208.2:c.298C>G	NP_001245137.1:p.Leu100Val
NM_001258209.2:c.247C>G	NP_001245138.1:p.Leu83Val