Canonical Allele Identifier: CA382899147

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963840T>A (hg19) ; chr11:g.119093130T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093130T>A , CM000673.2:g.119093130T>A	GRCh38
NC_000011.9:g.118963840T>A , CM000673.1:g.118963840T>A	GRCh37
NC_000011.8:g.118469050T>A	NCBI36
NG_008093.1:g.13254T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.768T>A	ENSP00000509288.1:p.Asp256Glu
ENST00000691144.1:n.3148T>A
ENST00000691249.1:n.1757T>A
ENST00000442944.7:c.915T>A	ENSP00000392041.3:p.Asp305Glu
ENST00000640813.1:c.*170T>A	ENSP00000491061.1:n.*170T>A
ENST00000648026.1:c.827T>A	ENSP00000498044.1:n.827T>A
ENST00000648374.1:c.882T>A	ENSP00000497255.1:p.Asp294Glu
ENST00000650101.1:c.864T>A	ENSP00000496970.1:p.Asp288Glu
ENST00000650307.1:n.1759T>A
ENST00000652429.1:c.933T>A MANE Select	ENSP00000498786.1:p.Asp311Glu
ENST00000278715.7:c.933T>A	ENSP00000278715.3:p.Asp311Glu
ENST00000392841.1:c.882T>A	ENSP00000376584.1:p.Asp294Glu
ENST00000442944.6:c.882T>A	ENSP00000392041.2:p.Asp294Glu
ENST00000537841.5:c.882T>A	ENSP00000444730.1:p.Asp294Glu
ENST00000539045.1:n.432T>A
ENST00000542044.5:n.1378T>A
ENST00000542729.5:c.762T>A	ENSP00000443058.1:p.Asp254Glu
ENST00000543090.5:c.840T>A	ENSP00000445429.1:p.Asp280Glu
ENST00000543543.5:n.1408T>A
ENST00000544182.1:n.1382T>A
ENST00000544387.5:c.813T>A	ENSP00000438424.1:p.Asp271Glu
ENST00000546226.5:n.1695T>A
NM_000190.3:c.933T>A	NP_000181.2:p.Asp311Glu
NM_001024382.1:c.882T>A	NP_001019553.1:p.Asp294Glu
NM_001258208.1:c.813T>A	NP_001245137.1:p.Asp271Glu
NM_001258209.1:c.762T>A	NP_001245138.1:p.Asp254Glu
XM_005271531.1:c.882T>A	XP_005271588.1:p.Asp294Glu
XM_005271532.1:c.882T>A	XP_005271589.1:p.Asp294Glu
XM_005271533.2:c.879T>A	XP_005271590.1:p.Asp293Glu
XM_011542796.1:c.768T>A	XP_011541098.1:p.Asp256Glu
NM_000190.4:c.933T>A MANE Select	NP_000181.2:p.Asp311Glu
NM_001024382.2:c.882T>A	NP_001019553.1:p.Asp294Glu
XM_005271533.3:c.879T>A	XP_005271590.1:p.Asp293Glu
XM_017017629.1:c.882T>A	XP_016873118.1:p.Asp294Glu
XM_024448460.1:c.759T>A	XP_024304228.1:p.Asp253Glu
NM_001258208.2:c.813T>A	NP_001245137.1:p.Asp271Glu
NM_001258209.2:c.762T>A	NP_001245138.1:p.Asp254Glu