Canonical Allele Identifier: CA382892776

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119090058C>T , CM000673.2:g.119090058C>T	GRCh38
NC_000011.9:g.118960768C>T , CM000673.1:g.118960768C>T	GRCh37
NC_000011.8:g.118465978C>T	NCBI36
NG_008093.1:g.10182C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000190.4:c.413C>T MANE Select	NP_000181.2:p.Pro138Leu
ENST00000652429.1:c.413C>T MANE Select	ENSP00000498786.1:p.Pro138Leu
NM_000190.3:c.413C>T	NP_000181.2:p.Pro138Leu
NM_001024382.1:c.362C>T	NP_001019553.1:p.Pro121Leu
NM_001024382.2:c.362C>T	NP_001019553.1:p.Pro121Leu
NM_001258208.1:c.413C>T	NP_001245137.1:p.Pro138Leu
NM_001258208.2:c.413C>T	NP_001245137.1:p.Pro138Leu
NM_001258209.1:c.362C>T	NP_001245138.1:p.Pro121Leu
NM_001258209.2:c.362C>T	NP_001245138.1:p.Pro121Leu
ENST00000278715.7:c.413C>T	ENSP00000278715.3:p.Pro138Leu
ENST00000392841.1:c.362C>T	ENSP00000376584.1:p.Pro121Leu
ENST00000442944.6:c.362C>T	ENSP00000392041.2:p.Pro121Leu
ENST00000442944.7:c.395C>T	ENSP00000392041.3:p.Pro132Leu
ENST00000534956.1:n.329C>T
ENST00000534956.2:n.362C>T
ENST00000535253.5:c.362C>T	ENSP00000442079.1:p.Pro121Leu
ENST00000535793.5:c.*308C>T	ENSP00000439904.1:n.*308C>T
ENST00000536813.6:c.362C>T	ENSP00000438726.2:p.Pro121Leu
ENST00000537841.5:c.362C>T	ENSP00000444730.1:p.Pro121Leu
ENST00000539986.5:c.362C>T	ENSP00000440092.1:p.Pro121Leu
ENST00000542044.5:n.858C>T
ENST00000542345.5:n.551C>T
ENST00000542729.5:c.362C>T	ENSP00000443058.1:p.Pro121Leu
ENST00000542822.5:c.*349C>T	ENSP00000444817.1:n.*349C>T
ENST00000543090.5:c.359C>T	ENSP00000445429.1:p.Pro120Leu
ENST00000543543.5:n.648C>T
ENST00000544360.5:n.381C>T
ENST00000544387.5:c.413C>T	ENSP00000438424.1:p.Pro138Leu
ENST00000545621.5:c.*308C>T	ENSP00000444849.1:n.*308C>T
ENST00000546226.5:n.701C>T
ENST00000546302.5:c.335C>T	ENSP00000445599.1:p.Pro112Leu
ENST00000546302.6:c.335C>T	ENSP00000445599.1:p.Pro112Leu
ENST00000640813.1:c.362C>T	ENSP00000491061.1:p.Pro121Leu
ENST00000648026.1:c.407C>T	ENSP00000498044.1:p.Pro136Leu
ENST00000648374.1:c.362C>T	ENSP00000497255.1:p.Pro121Leu
ENST00000648488.1:c.362C>T	ENSP00000498079.1:p.Pro121Leu
ENST00000649823.1:n.630C>T
ENST00000649868.1:c.*121C>T	ENSP00000497548.1:n.*121C>T
ENST00000650101.1:c.344C>T	ENSP00000496970.1:p.Pro115Leu
ENST00000650307.1:n.1239C>T
ENST00000686218.1:c.248C>T	ENSP00000509288.1:p.Pro83Leu
ENST00000686690.1:n.1263C>T
ENST00000691144.1:n.2154C>T
ENST00000691249.1:n.997C>T
XM_005271531.1:c.362C>T	XP_005271588.1:p.Pro121Leu
XM_005271532.1:c.362C>T	XP_005271589.1:p.Pro121Leu
XM_005271533.2:c.359C>T	XP_005271590.1:p.Pro120Leu
XM_005271533.3:c.359C>T	XP_005271590.1:p.Pro120Leu
XM_011542796.1:c.248C>T	XP_011541098.1:p.Pro83Leu
XM_017017629.1:c.362C>T	XP_016873118.1:p.Pro121Leu
XM_024448460.1:c.359C>T	XP_024304228.1:p.Pro120Leu