Canonical Allele Identifier: CA382889715

Gene: HMBS

Linked Data

• gnomAD v4: 11-119089227-A-G
• MyVariant Identifiers: chr11:g.118959937A>G (hg19) ; chr11:g.119089227A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119089227A>G , CM000673.2:g.119089227A>G	GRCh38
NC_000011.9:g.118959937A>G , CM000673.1:g.118959937A>G	GRCh37
NC_000011.8:g.118465147A>G	NCBI36
NG_008093.1:g.9351A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.56A>G	ENSP00000509288.1:p.Lys19Arg
ENST00000686690.1:n.842A>G
ENST00000691144.1:n.1962A>G
ENST00000691249.1:n.805A>G
ENST00000442944.7:c.203A>G	ENSP00000392041.3:p.Lys68Arg
ENST00000534956.2:n.170A>G
ENST00000536813.6:c.170A>G	ENSP00000438726.2:p.Lys57Arg
ENST00000546302.6:c.221A>G	ENSP00000445599.1:p.Lys74Arg
ENST00000640813.1:c.170A>G	ENSP00000491061.1:p.Lys57Arg
ENST00000648026.1:c.215A>G	ENSP00000498044.1:p.Lys72Arg
ENST00000648374.1:c.170A>G	ENSP00000497255.1:p.Lys57Arg
ENST00000648488.1:c.170A>G	ENSP00000498079.1:p.Lys57Arg
ENST00000649823.1:n.438A>G
ENST00000649868.1:c.76A>G	ENSP00000497548.1:p.Lys26Glu
ENST00000650101.1:c.152A>G	ENSP00000496970.1:p.Lys51Arg
ENST00000650307.1:n.1047A>G
ENST00000652429.1:c.221A>G MANE Select	ENSP00000498786.1:p.Lys74Arg
ENST00000278715.7:c.221A>G	ENSP00000278715.3:p.Lys74Arg
ENST00000392841.1:c.170A>G	ENSP00000376584.1:p.Lys57Arg
ENST00000442944.6:c.170A>G	ENSP00000392041.2:p.Lys57Arg
ENST00000534956.1:n.137A>G
ENST00000535253.5:c.170A>G	ENSP00000442079.1:p.Lys57Arg
ENST00000535793.5:c.*116A>G	ENSP00000439904.1:n.*116A>G
ENST00000536185.5:n.339A>G
ENST00000536813.5:c.203A>G	ENSP00000438726.1:p.Lys68Arg
ENST00000537841.5:c.170A>G	ENSP00000444730.1:p.Lys57Arg
ENST00000539986.5:c.170A>G	ENSP00000440092.1:p.Lys57Arg
ENST00000542044.5:n.666A>G
ENST00000542345.5:n.359A>G
ENST00000542729.5:c.170A>G	ENSP00000443058.1:p.Lys57Arg
ENST00000542822.5:c.*157A>G	ENSP00000444817.1:n.*157A>G
ENST00000543090.5:c.167A>G	ENSP00000445429.1:p.Lys56Arg
ENST00000543543.5:n.456A>G
ENST00000543821.5:n.367A>G
ENST00000544360.5:n.189A>G
ENST00000544387.5:c.221A>G	ENSP00000438424.1:p.Lys74Arg
ENST00000545621.5:c.*116A>G	ENSP00000444849.1:n.*116A>G
ENST00000546226.5:n.280A>G
ENST00000546302.5:c.221A>G	ENSP00000445599.1:p.Lys74Arg
NM_000190.3:c.221A>G	NP_000181.2:p.Lys74Arg
NM_001024382.1:c.170A>G	NP_001019553.1:p.Lys57Arg
NM_001258208.1:c.221A>G	NP_001245137.1:p.Lys74Arg
NM_001258209.1:c.170A>G	NP_001245138.1:p.Lys57Arg
XM_005271531.1:c.170A>G	XP_005271588.1:p.Lys57Arg
XM_005271532.1:c.170A>G	XP_005271589.1:p.Lys57Arg
XM_005271533.2:c.167A>G	XP_005271590.1:p.Lys56Arg
XM_011542796.1:c.56A>G	XP_011541098.1:p.Lys19Arg
NM_000190.4:c.221A>G MANE Select	NP_000181.2:p.Lys74Arg
NM_001024382.2:c.170A>G	NP_001019553.1:p.Lys57Arg
XM_005271533.3:c.167A>G	XP_005271590.1:p.Lys56Arg
XM_017017629.1:c.170A>G	XP_016873118.1:p.Lys57Arg
XM_024448460.1:c.167A>G	XP_024304228.1:p.Lys56Arg
NM_001258208.2:c.221A>G	NP_001245137.1:p.Lys74Arg
NM_001258209.2:c.170A>G	NP_001245138.1:p.Lys57Arg