Canonical Allele Identifier: CA382890028

Gene: HMBS

Linked Data

• gnomAD v4: 11-119089256-G-A
• MyVariant Identifiers: chr11:g.118959966G>A (hg19) ; chr11:g.119089256G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119089256G>A , CM000673.2:g.119089256G>A	GRCh38
NC_000011.9:g.118959966G>A , CM000673.1:g.118959966G>A	GRCh37
NC_000011.8:g.118465176G>A	NCBI36
NG_008093.1:g.9380G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.85G>A	ENSP00000509288.1:p.Ala29Thr
ENST00000686690.1:n.871G>A
ENST00000691144.1:n.1991G>A
ENST00000691249.1:n.834G>A
ENST00000442944.7:c.232G>A	ENSP00000392041.3:p.Ala78Thr
ENST00000534956.2:n.199G>A
ENST00000536813.6:c.199G>A	ENSP00000438726.2:p.Ala67Thr
ENST00000546302.6:c.250G>A	ENSP00000445599.1:p.Ala84Thr
ENST00000640813.1:c.199G>A	ENSP00000491061.1:p.Ala67Thr
ENST00000648026.1:c.244G>A	ENSP00000498044.1:p.Ala82Thr
ENST00000648374.1:c.199G>A	ENSP00000497255.1:p.Ala67Thr
ENST00000648488.1:c.199G>A	ENSP00000498079.1:p.Ala67Thr
ENST00000649823.1:n.467G>A
ENST00000649868.1:c.105G>A	ENSP00000497548.1:p.Met35Ile
ENST00000650101.1:c.181G>A	ENSP00000496970.1:p.Ala61Thr
ENST00000650307.1:n.1076G>A
ENST00000652429.1:c.250G>A MANE Select	ENSP00000498786.1:p.Ala84Thr
ENST00000278715.7:c.250G>A	ENSP00000278715.3:p.Ala84Thr
ENST00000392841.1:c.199G>A	ENSP00000376584.1:p.Ala67Thr
ENST00000442944.6:c.199G>A	ENSP00000392041.2:p.Ala67Thr
ENST00000534956.1:n.166G>A
ENST00000535253.5:c.199G>A	ENSP00000442079.1:p.Ala67Thr
ENST00000535793.5:c.*145G>A	ENSP00000439904.1:n.*145G>A
ENST00000536185.5:n.368G>A
ENST00000536813.5:c.232G>A	ENSP00000438726.1:p.Ala78Thr
ENST00000537841.5:c.199G>A	ENSP00000444730.1:p.Ala67Thr
ENST00000539986.5:c.199G>A	ENSP00000440092.1:p.Ala67Thr
ENST00000542044.5:n.695G>A
ENST00000542345.5:n.388G>A
ENST00000542729.5:c.199G>A	ENSP00000443058.1:p.Ala67Thr
ENST00000542822.5:c.*186G>A	ENSP00000444817.1:n.*186G>A
ENST00000543090.5:c.196G>A	ENSP00000445429.1:p.Ala66Thr
ENST00000543543.5:n.485G>A
ENST00000543821.5:n.396G>A
ENST00000544360.5:n.218G>A
ENST00000544387.5:c.250G>A	ENSP00000438424.1:p.Ala84Thr
ENST00000545621.5:c.*145G>A	ENSP00000444849.1:n.*145G>A
ENST00000546226.5:n.309G>A
ENST00000546302.5:c.250G>A	ENSP00000445599.1:p.Ala84Thr
NM_000190.3:c.250G>A	NP_000181.2:p.Ala84Thr
NM_001024382.1:c.199G>A	NP_001019553.1:p.Ala67Thr
NM_001258208.1:c.250G>A	NP_001245137.1:p.Ala84Thr
NM_001258209.1:c.199G>A	NP_001245138.1:p.Ala67Thr
XM_005271531.1:c.199G>A	XP_005271588.1:p.Ala67Thr
XM_005271532.1:c.199G>A	XP_005271589.1:p.Ala67Thr
XM_005271533.2:c.196G>A	XP_005271590.1:p.Ala66Thr
XM_011542796.1:c.85G>A	XP_011541098.1:p.Ala29Thr
NM_000190.4:c.250G>A MANE Select	NP_000181.2:p.Ala84Thr
NM_001024382.2:c.199G>A	NP_001019553.1:p.Ala67Thr
XM_005271533.3:c.196G>A	XP_005271590.1:p.Ala66Thr
XM_017017629.1:c.199G>A	XP_016873118.1:p.Ala67Thr
XM_024448460.1:c.196G>A	XP_024304228.1:p.Ala66Thr
NM_001258208.2:c.250G>A	NP_001245137.1:p.Ala84Thr
NM_001258209.2:c.199G>A	NP_001245138.1:p.Ala67Thr