Canonical Allele Identifier: CA477125144

Gene: HMBS

Linked Data

• dbSNP Id: rs11544980
• gnomAD v3: 11-119089755-C-A
• gnomAD v4: 11-119089755-C-A
• MyVariant Identifiers: chr11:g.118960465C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119089755C>A , CM000673.2:g.119089755C>A	GRCh38
NC_000011.9:g.118960465C>A , CM000673.1:g.118960465C>A	GRCh37
NC_000011.8:g.118465675C>A	NCBI36
NG_008093.1:g.9879C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.174C>A	ENSP00000509288.1:p.Ile58=
ENST00000686690.1:n.960C>A
ENST00000691144.1:n.2080C>A
ENST00000691249.1:n.923C>A
ENST00000442944.7:c.321C>A	ENSP00000392041.3:p.Ile107=
ENST00000534956.2:n.288C>A
ENST00000536813.6:c.288C>A	ENSP00000438726.2:p.Ile96=
ENST00000546302.6:c.267-235C>A	ENSP00000445599.1:n.267-235C>A
ENST00000640813.1:c.288C>A	ENSP00000491061.1:p.Ile96=
ENST00000648026.1:c.333C>A	ENSP00000498044.1:p.Ile111=
ENST00000648374.1:c.288C>A	ENSP00000497255.1:p.Ile96=
ENST00000648488.1:c.288C>A	ENSP00000498079.1:p.Ile96=
ENST00000649823.1:n.556C>A
ENST00000649868.1:c.*47C>A	ENSP00000497548.1:n.*47C>A
ENST00000650101.1:c.270C>A	ENSP00000496970.1:p.Ile90=
ENST00000650307.1:n.1165C>A
ENST00000652429.1:c.339C>A MANE Select	ENSP00000498786.1:p.Ile113=
ENST00000278715.7:c.339C>A	ENSP00000278715.3:p.Ile113=
ENST00000392841.1:c.288C>A	ENSP00000376584.1:p.Ile96=
ENST00000442944.6:c.288C>A	ENSP00000392041.2:p.Ile96=
ENST00000534956.1:n.255C>A
ENST00000535253.5:c.288C>A	ENSP00000442079.1:p.Ile96=
ENST00000535793.5:c.*234C>A	ENSP00000439904.1:n.*234C>A
ENST00000536813.5:c.321C>A	ENSP00000438726.1:p.Ile107=
ENST00000537841.5:c.288C>A	ENSP00000444730.1:p.Ile96=
ENST00000539986.5:c.288C>A	ENSP00000440092.1:p.Ile96=
ENST00000542044.5:n.784C>A
ENST00000542345.5:n.477C>A
ENST00000542729.5:c.288C>A	ENSP00000443058.1:p.Ile96=
ENST00000542822.5:c.*275C>A	ENSP00000444817.1:n.*275C>A
ENST00000543090.5:c.285C>A	ENSP00000445429.1:p.Ile95=
ENST00000543543.5:n.574C>A
ENST00000543821.5:n.485C>A
ENST00000544360.5:n.307C>A
ENST00000544387.5:c.339C>A	ENSP00000438424.1:p.Ile113=
ENST00000545621.5:c.*234C>A	ENSP00000444849.1:n.*234C>A
ENST00000546226.5:n.398C>A
ENST00000546302.5:c.267-235C>A	ENSP00000445599.1:n.267-235C>A
NM_000190.3:c.339C>A	NP_000181.2:p.Ile113=
NM_001024382.1:c.288C>A	NP_001019553.1:p.Ile96=
NM_001258208.1:c.339C>A	NP_001245137.1:p.Ile113=
NM_001258209.1:c.288C>A	NP_001245138.1:p.Ile96=
XM_005271531.1:c.288C>A	XP_005271588.1:p.Ile96=
XM_005271532.1:c.288C>A	XP_005271589.1:p.Ile96=
XM_005271533.2:c.285C>A	XP_005271590.1:p.Ile95=
XM_011542796.1:c.174C>A	XP_011541098.1:p.Ile58=
NM_000190.4:c.339C>A MANE Select	NP_000181.2:p.Ile113=
NM_001024382.2:c.288C>A	NP_001019553.1:p.Ile96=
XM_005271533.3:c.285C>A	XP_005271590.1:p.Ile95=
XM_017017629.1:c.288C>A	XP_016873118.1:p.Ile96=
XM_024448460.1:c.285C>A	XP_024304228.1:p.Ile95=
NM_001258208.2:c.339C>A	NP_001245137.1:p.Ile113=
NM_001258209.2:c.288C>A	NP_001245138.1:p.Ile96=