Canonical Allele Identifier: CA382899270

Gene: HMBS

Linked Data

• gnomAD v4: 11-119093149-A-G
• MyVariant Identifiers: chr11:g.118963859A>G (hg19) ; chr11:g.119093149A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093149A>G , CM000673.2:g.119093149A>G	GRCh38
NC_000011.9:g.118963859A>G , CM000673.1:g.118963859A>G	GRCh37
NC_000011.8:g.118469069A>G	NCBI36
NG_008093.1:g.13273A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.787A>G	ENSP00000509288.1:p.Ile263Val
ENST00000691144.1:n.3167A>G
ENST00000691249.1:n.1776A>G
ENST00000442944.7:c.934A>G	ENSP00000392041.3:p.Ile312Val
ENST00000640813.1:c.*189A>G	ENSP00000491061.1:n.*189A>G
ENST00000648026.1:c.846A>G	ENSP00000498044.1:n.846A>G
ENST00000648374.1:c.901A>G	ENSP00000497255.1:p.Ile301Val
ENST00000650101.1:c.883A>G	ENSP00000496970.1:p.Ile295Val
ENST00000650307.1:n.1778A>G
ENST00000652429.1:c.952A>G MANE Select	ENSP00000498786.1:p.Ile318Val
ENST00000278715.7:c.952A>G	ENSP00000278715.3:p.Ile318Val
ENST00000392841.1:c.901A>G	ENSP00000376584.1:p.Ile301Val
ENST00000442944.6:c.901A>G	ENSP00000392041.2:p.Ile301Val
ENST00000537841.5:c.901A>G	ENSP00000444730.1:p.Ile301Val
ENST00000539045.1:n.451A>G
ENST00000542044.5:n.1397A>G
ENST00000542729.5:c.781A>G	ENSP00000443058.1:p.Ile261Val
ENST00000543090.5:c.859A>G	ENSP00000445429.1:p.Ile287Val
ENST00000543543.5:n.1427A>G
ENST00000544182.1:n.1401A>G
ENST00000544387.5:c.832A>G	ENSP00000438424.1:p.Ile278Val
ENST00000546226.5:n.1714A>G
NM_000190.3:c.952A>G	NP_000181.2:p.Ile318Val
NM_001024382.1:c.901A>G	NP_001019553.1:p.Ile301Val
NM_001258208.1:c.832A>G	NP_001245137.1:p.Ile278Val
NM_001258209.1:c.781A>G	NP_001245138.1:p.Ile261Val
XM_005271531.1:c.901A>G	XP_005271588.1:p.Ile301Val
XM_005271532.1:c.901A>G	XP_005271589.1:p.Ile301Val
XM_005271533.2:c.898A>G	XP_005271590.1:p.Ile300Val
XM_011542796.1:c.787A>G	XP_011541098.1:p.Ile263Val
NM_000190.4:c.952A>G MANE Select	NP_000181.2:p.Ile318Val
NM_001024382.2:c.901A>G	NP_001019553.1:p.Ile301Val
XM_005271533.3:c.898A>G	XP_005271590.1:p.Ile300Val
XM_017017629.1:c.901A>G	XP_016873118.1:p.Ile301Val
XM_024448460.1:c.778A>G	XP_024304228.1:p.Ile260Val
NM_001258208.2:c.832A>G	NP_001245137.1:p.Ile278Val
NM_001258209.2:c.781A>G	NP_001245138.1:p.Ile261Val