Canonical Allele Identifier: CA382890988

Gene: HMBS

Linked Data

• gnomAD v4: 11-119089739-T-G
• MyVariant Identifiers: chr11:g.118960449T>G (hg19) ; chr11:g.119089739T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119089739T>G , CM000673.2:g.119089739T>G	GRCh38
NC_000011.9:g.118960449T>G , CM000673.1:g.118960449T>G	GRCh37
NC_000011.8:g.118465659T>G	NCBI36
NG_008093.1:g.9863T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.158T>G	ENSP00000509288.1:p.Phe53Cys
ENST00000686690.1:n.944T>G
ENST00000691144.1:n.2064T>G
ENST00000691249.1:n.907T>G
ENST00000442944.7:c.305T>G	ENSP00000392041.3:p.Phe102Cys
ENST00000534956.2:n.272T>G
ENST00000536813.6:c.272T>G	ENSP00000438726.2:p.Phe91Cys
ENST00000546302.6:c.267-251T>G	ENSP00000445599.1:n.267-251T>G
ENST00000640813.1:c.272T>G	ENSP00000491061.1:p.Phe91Cys
ENST00000648026.1:c.317T>G	ENSP00000498044.1:p.Phe106Cys
ENST00000648374.1:c.272T>G	ENSP00000497255.1:p.Phe91Cys
ENST00000648488.1:c.272T>G	ENSP00000498079.1:p.Phe91Cys
ENST00000649823.1:n.540T>G
ENST00000649868.1:c.*31T>G	ENSP00000497548.1:n.*31T>G
ENST00000650101.1:c.254T>G	ENSP00000496970.1:p.Phe85Cys
ENST00000650307.1:n.1149T>G
ENST00000652429.1:c.323T>G MANE Select	ENSP00000498786.1:p.Phe108Cys
ENST00000278715.7:c.323T>G	ENSP00000278715.3:p.Phe108Cys
ENST00000392841.1:c.272T>G	ENSP00000376584.1:p.Phe91Cys
ENST00000442944.6:c.272T>G	ENSP00000392041.2:p.Phe91Cys
ENST00000534956.1:n.239T>G
ENST00000535253.5:c.272T>G	ENSP00000442079.1:p.Phe91Cys
ENST00000535793.5:c.*218T>G	ENSP00000439904.1:n.*218T>G
ENST00000536185.5:n.441T>G
ENST00000536813.5:c.305T>G	ENSP00000438726.1:p.Phe102Cys
ENST00000537841.5:c.272T>G	ENSP00000444730.1:p.Phe91Cys
ENST00000539986.5:c.272T>G	ENSP00000440092.1:p.Phe91Cys
ENST00000542044.5:n.768T>G
ENST00000542345.5:n.461T>G
ENST00000542729.5:c.272T>G	ENSP00000443058.1:p.Phe91Cys
ENST00000542822.5:c.*259T>G	ENSP00000444817.1:n.*259T>G
ENST00000543090.5:c.269T>G	ENSP00000445429.1:p.Phe90Cys
ENST00000543543.5:n.558T>G
ENST00000543821.5:n.469T>G
ENST00000544360.5:n.291T>G
ENST00000544387.5:c.323T>G	ENSP00000438424.1:p.Phe108Cys
ENST00000545621.5:c.*218T>G	ENSP00000444849.1:n.*218T>G
ENST00000546226.5:n.382T>G
ENST00000546302.5:c.267-251T>G	ENSP00000445599.1:n.267-251T>G
NM_000190.3:c.323T>G	NP_000181.2:p.Phe108Cys
NM_001024382.1:c.272T>G	NP_001019553.1:p.Phe91Cys
NM_001258208.1:c.323T>G	NP_001245137.1:p.Phe108Cys
NM_001258209.1:c.272T>G	NP_001245138.1:p.Phe91Cys
XM_005271531.1:c.272T>G	XP_005271588.1:p.Phe91Cys
XM_005271532.1:c.272T>G	XP_005271589.1:p.Phe91Cys
XM_005271533.2:c.269T>G	XP_005271590.1:p.Phe90Cys
XM_011542796.1:c.158T>G	XP_011541098.1:p.Phe53Cys
NM_000190.4:c.323T>G MANE Select	NP_000181.2:p.Phe108Cys
NM_001024382.2:c.272T>G	NP_001019553.1:p.Phe91Cys
XM_005271533.3:c.269T>G	XP_005271590.1:p.Phe90Cys
XM_017017629.1:c.272T>G	XP_016873118.1:p.Phe91Cys
XM_024448460.1:c.269T>G	XP_024304228.1:p.Phe90Cys
NM_001258208.2:c.323T>G	NP_001245137.1:p.Phe108Cys
NM_001258209.2:c.272T>G	NP_001245138.1:p.Phe91Cys