Canonical Allele Identifier: CA477126867

Gene: HMBS

Linked Data

• gnomAD v4: 11-119092409-C-G
• MyVariant Identifiers: chr11:g.118963119C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092409C>G , CM000673.2:g.119092409C>G	GRCh38
NC_000011.9:g.118963119C>G , CM000673.1:g.118963119C>G	GRCh37
NC_000011.8:g.118468329C>G	NCBI36
NG_008093.1:g.12533C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.492C>G	ENSP00000509288.1:p.Ala164=
ENST00000691144.1:n.2638C>G
ENST00000691249.1:n.1481C>G
ENST00000442944.7:c.639C>G	ENSP00000392041.3:p.Ala213=
ENST00000536813.6:c.606C>G	ENSP00000438726.2:p.Ala202=
ENST00000640813.1:c.467C>G	ENSP00000491061.1:p.Pro156Arg
ENST00000648026.1:c.551C>G	ENSP00000498044.1:p.Pro184Arg
ENST00000648374.1:c.606C>G	ENSP00000497255.1:p.Ala202=
ENST00000649823.1:n.1114C>G
ENST00000650101.1:c.588C>G	ENSP00000496970.1:p.Ala196=
ENST00000650307.1:n.1483C>G
ENST00000652429.1:c.657C>G MANE Select	ENSP00000498786.1:p.Ala219=
ENST00000278715.7:c.657C>G	ENSP00000278715.3:p.Ala219=
ENST00000392841.1:c.606C>G	ENSP00000376584.1:p.Ala202=
ENST00000442944.6:c.606C>G	ENSP00000392041.2:p.Ala202=
ENST00000537841.5:c.606C>G	ENSP00000444730.1:p.Ala202=
ENST00000542044.5:n.1102C>G
ENST00000542729.5:c.600+246C>G	ENSP00000443058.1:n.600+246C>G
ENST00000543090.5:c.564C>G	ENSP00000445429.1:p.Ala188=
ENST00000543543.5:n.1132C>G
ENST00000544182.1:n.872C>G
ENST00000544387.5:c.651+246C>G	ENSP00000438424.1:n.651+246C>G
ENST00000545621.5:c.*792C>G	ENSP00000444849.1:n.*792C>G
ENST00000546226.5:n.1185C>G
NM_000190.3:c.657C>G	NP_000181.2:p.Ala219=
NM_001024382.1:c.606C>G	NP_001019553.1:p.Ala202=
NM_001258208.1:c.651+246C>G	NP_001245137.1:n.651+246C>G
NM_001258209.1:c.600+246C>G	NP_001245138.1:n.600+246C>G
XM_005271531.1:c.606C>G	XP_005271588.1:p.Ala202=
XM_005271532.1:c.606C>G	XP_005271589.1:p.Ala202=
XM_005271533.2:c.603C>G	XP_005271590.1:p.Ala201=
XM_011542796.1:c.492C>G	XP_011541098.1:p.Ala164=
NM_000190.4:c.657C>G MANE Select	NP_000181.2:p.Ala219=
NM_001024382.2:c.606C>G	NP_001019553.1:p.Ala202=
XM_005271533.3:c.603C>G	XP_005271590.1:p.Ala201=
XM_017017629.1:c.606C>G	XP_016873118.1:p.Ala202=
XM_024448460.1:c.597+246C>G	XP_024304228.1:n.597+246C>G
NM_001258208.2:c.651+246C>G	NP_001245137.1:n.651+246C>G
NM_001258209.2:c.600+246C>G	NP_001245138.1:n.600+246C>G