Canonical Allele Identifier: CA382896597

Gene: HMBS

Linked Data

• gnomAD v4: 11-119092125-A-G
• MyVariant Identifiers: chr11:g.118962835A>G (hg19) ; chr11:g.119092125A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092125A>G , CM000673.2:g.119092125A>G	GRCh38
NC_000011.9:g.118962835A>G , CM000673.1:g.118962835A>G	GRCh37
NC_000011.8:g.118468045A>G	NCBI36
NG_008093.1:g.12249A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.448A>G	ENSP00000509288.1:p.Ile150Val
ENST00000691144.1:n.2354A>G
ENST00000691249.1:n.1197A>G
ENST00000442944.7:c.595A>G	ENSP00000392041.3:p.Ile199Val
ENST00000536813.6:c.562A>G	ENSP00000438726.2:p.Ile188Val
ENST00000546302.6:c.535A>G	ENSP00000445599.1:p.Ile179Val
ENST00000640813.1:c.461+251A>G	ENSP00000491061.1:n.461+251A>G
ENST00000648026.1:c.507A>G	ENSP00000498044.1:p.Leu169=
ENST00000648374.1:c.562A>G	ENSP00000497255.1:p.Ile188Val
ENST00000648488.1:c.*86A>G	ENSP00000498079.1:n.*86A>G
ENST00000649823.1:n.830A>G
ENST00000650101.1:c.544A>G	ENSP00000496970.1:p.Ile182Val
ENST00000650307.1:n.1439A>G
ENST00000652429.1:c.613A>G MANE Select	ENSP00000498786.1:p.Ile205Val
ENST00000278715.7:c.613A>G	ENSP00000278715.3:p.Ile205Val
ENST00000392841.1:c.562A>G	ENSP00000376584.1:p.Ile188Val
ENST00000442944.6:c.562A>G	ENSP00000392041.2:p.Ile188Val
ENST00000537841.5:c.562A>G	ENSP00000444730.1:p.Ile188Val
ENST00000542044.5:n.1058A>G
ENST00000542345.5:n.751A>G
ENST00000542729.5:c.562A>G	ENSP00000443058.1:p.Ile188Val
ENST00000543090.5:c.559-279A>G	ENSP00000445429.1:n.559-279A>G
ENST00000543543.5:n.848A>G
ENST00000544182.1:n.588A>G
ENST00000544387.5:c.613A>G	ENSP00000438424.1:p.Ile205Val
ENST00000545621.5:c.*508A>G	ENSP00000444849.1:n.*508A>G
ENST00000546226.5:n.901A>G
ENST00000546302.5:c.535A>G	ENSP00000445599.1:p.Ile179Val
NM_000190.3:c.613A>G	NP_000181.2:p.Ile205Val
NM_001024382.1:c.562A>G	NP_001019553.1:p.Ile188Val
NM_001258208.1:c.613A>G	NP_001245137.1:p.Ile205Val
NM_001258209.1:c.562A>G	NP_001245138.1:p.Ile188Val
XM_005271531.1:c.562A>G	XP_005271588.1:p.Ile188Val
XM_005271532.1:c.562A>G	XP_005271589.1:p.Ile188Val
XM_005271533.2:c.559A>G	XP_005271590.1:p.Ile187Val
XM_011542796.1:c.448A>G	XP_011541098.1:p.Ile150Val
NM_000190.4:c.613A>G MANE Select	NP_000181.2:p.Ile205Val
NM_001024382.2:c.562A>G	NP_001019553.1:p.Ile188Val
XM_005271533.3:c.559A>G	XP_005271590.1:p.Ile187Val
XM_017017629.1:c.562A>G	XP_016873118.1:p.Ile188Val
XM_024448460.1:c.559A>G	XP_024304228.1:p.Ile187Val
NM_001258208.2:c.613A>G	NP_001245137.1:p.Ile205Val
NM_001258209.2:c.562A>G	NP_001245138.1:p.Ile188Val