Canonical Allele Identifier: CA2616354267

Gene: HMBS

Linked Data

• gnomAD v4: 11-119091819-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119091819T>A , CM000673.2:g.119091819T>A	GRCh38
NC_000011.9:g.118962529T>A , CM000673.1:g.118962529T>A	GRCh37
NC_000011.8:g.118467739T>A	NCBI36
NG_008093.1:g.11943T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.447+293T>A	ENSP00000509288.1:n.447+293T>A
ENST00000686690.1:n.1755T>A
ENST00000691144.1:n.2353+293T>A
ENST00000691249.1:n.1196+293T>A
ENST00000442944.7:c.594+293T>A	ENSP00000392041.3:n.594+293T>A
ENST00000534956.2:n.448-42T>A
ENST00000536813.6:c.561+293T>A	ENSP00000438726.2:n.561+293T>A
ENST00000546302.6:c.534+293T>A	ENSP00000445599.1:n.534+293T>A
ENST00000640813.1:c.448-42T>A	ENSP00000491061.1:n.448-42T>A
ENST00000648026.1:c.493-42T>A	ENSP00000498044.1:n.493-42T>A
ENST00000648374.1:c.561+293T>A	ENSP00000497255.1:n.561+293T>A
ENST00000648488.1:c.*86-306T>A	ENSP00000498079.1:n.*86-306T>A
ENST00000649823.1:n.829+293T>A
ENST00000649868.1:c.*207-42T>A	ENSP00000497548.1:n.*207-42T>A
ENST00000650101.1:c.543+293T>A	ENSP00000496970.1:n.543+293T>A
ENST00000650307.1:n.1438+293T>A
ENST00000652429.1:c.612+293T>A MANE Select	ENSP00000498786.1:n.612+293T>A
ENST00000278715.7:c.612+293T>A	ENSP00000278715.3:n.612+293T>A
ENST00000392841.1:c.561+293T>A	ENSP00000376584.1:n.561+293T>A
ENST00000442944.6:c.561+293T>A	ENSP00000392041.2:n.561+293T>A
ENST00000534956.1:n.415-42T>A
ENST00000537841.5:c.561+293T>A	ENSP00000444730.1:n.561+293T>A
ENST00000542044.5:n.1057+293T>A
ENST00000542345.5:n.750+293T>A
ENST00000542729.5:c.561+293T>A	ENSP00000443058.1:n.561+293T>A
ENST00000543090.5:c.558+293T>A	ENSP00000445429.1:n.558+293T>A
ENST00000543543.5:n.847+293T>A
ENST00000544182.1:n.282T>A
ENST00000544387.5:c.612+293T>A	ENSP00000438424.1:n.612+293T>A
ENST00000545621.5:c.*507+293T>A	ENSP00000444849.1:n.*507+293T>A
ENST00000546226.5:n.900+293T>A
ENST00000546302.5:c.534+293T>A	ENSP00000445599.1:n.534+293T>A
NM_000190.3:c.612+293T>A	NP_000181.2:n.612+293T>A
NM_001024382.1:c.561+293T>A	NP_001019553.1:n.561+293T>A
NM_001258208.1:c.612+293T>A	NP_001245137.1:n.612+293T>A
NM_001258209.1:c.561+293T>A	NP_001245138.1:n.561+293T>A
XM_005271531.1:c.561+293T>A	XP_005271588.1:n.561+293T>A
XM_005271532.1:c.561+293T>A	XP_005271589.1:n.561+293T>A
XM_005271533.2:c.558+293T>A	XP_005271590.1:n.558+293T>A
XM_011542796.1:c.447+293T>A	XP_011541098.1:n.447+293T>A
NM_000190.4:c.612+293T>A MANE Select	NP_000181.2:n.612+293T>A
NM_001024382.2:c.561+293T>A	NP_001019553.1:n.561+293T>A
XM_005271533.3:c.558+293T>A	XP_005271590.1:n.558+293T>A
XM_017017629.1:c.561+293T>A	XP_016873118.1:n.561+293T>A
XM_024448460.1:c.558+293T>A	XP_024304228.1:n.558+293T>A
NM_001258208.2:c.612+293T>A	NP_001245137.1:n.612+293T>A
NM_001258209.2:c.561+293T>A	NP_001245138.1:n.561+293T>A