Canonical Allele Identifier: CA477126538

Gene: HMBS

Linked Data

• gnomAD v4: 11-119092127-C-A
• MyVariant Identifiers: chr11:g.118962837C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092127C>A , CM000673.2:g.119092127C>A	GRCh38
NC_000011.9:g.118962837C>A , CM000673.1:g.118962837C>A	GRCh37
NC_000011.8:g.118468047C>A	NCBI36
NG_008093.1:g.12251C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.450C>A	ENSP00000509288.1:p.Ile150=
ENST00000691144.1:n.2356C>A
ENST00000691249.1:n.1199C>A
ENST00000442944.7:c.597C>A	ENSP00000392041.3:p.Ile199=
ENST00000536813.6:c.564C>A	ENSP00000438726.2:p.Ile188=
ENST00000546302.6:c.537C>A	ENSP00000445599.1:p.Ile179=
ENST00000640813.1:c.461+253C>A	ENSP00000491061.1:n.461+253C>A
ENST00000648026.1:c.509C>A	ENSP00000498044.1:p.Ser170Tyr
ENST00000648374.1:c.564C>A	ENSP00000497255.1:p.Ile188=
ENST00000648488.1:c.*88C>A	ENSP00000498079.1:n.*88C>A
ENST00000649823.1:n.832C>A
ENST00000650101.1:c.546C>A	ENSP00000496970.1:p.Ile182=
ENST00000650307.1:n.1441C>A
ENST00000652429.1:c.615C>A MANE Select	ENSP00000498786.1:p.Ile205=
ENST00000278715.7:c.615C>A	ENSP00000278715.3:p.Ile205=
ENST00000392841.1:c.564C>A	ENSP00000376584.1:p.Ile188=
ENST00000442944.6:c.564C>A	ENSP00000392041.2:p.Ile188=
ENST00000537841.5:c.564C>A	ENSP00000444730.1:p.Ile188=
ENST00000542044.5:n.1060C>A
ENST00000542345.5:n.753C>A
ENST00000542729.5:c.564C>A	ENSP00000443058.1:p.Ile188=
ENST00000543090.5:c.559-277C>A	ENSP00000445429.1:n.559-277C>A
ENST00000543543.5:n.850C>A
ENST00000544182.1:n.590C>A
ENST00000544387.5:c.615C>A	ENSP00000438424.1:p.Ile205=
ENST00000545621.5:c.*510C>A	ENSP00000444849.1:n.*510C>A
ENST00000546226.5:n.903C>A
ENST00000546302.5:c.537C>A	ENSP00000445599.1:p.Ile179=
NM_000190.3:c.615C>A	NP_000181.2:p.Ile205=
NM_001024382.1:c.564C>A	NP_001019553.1:p.Ile188=
NM_001258208.1:c.615C>A	NP_001245137.1:p.Ile205=
NM_001258209.1:c.564C>A	NP_001245138.1:p.Ile188=
XM_005271531.1:c.564C>A	XP_005271588.1:p.Ile188=
XM_005271532.1:c.564C>A	XP_005271589.1:p.Ile188=
XM_005271533.2:c.561C>A	XP_005271590.1:p.Ile187=
XM_011542796.1:c.450C>A	XP_011541098.1:p.Ile150=
NM_000190.4:c.615C>A MANE Select	NP_000181.2:p.Ile205=
NM_001024382.2:c.564C>A	NP_001019553.1:p.Ile188=
XM_005271533.3:c.561C>A	XP_005271590.1:p.Ile187=
XM_017017629.1:c.564C>A	XP_016873118.1:p.Ile188=
XM_024448460.1:c.561C>A	XP_024304228.1:p.Ile187=
NM_001258208.2:c.615C>A	NP_001245137.1:p.Ile205=
NM_001258209.2:c.564C>A	NP_001245138.1:p.Ile188=