Canonical Allele Identifier: CA382900025

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963963T>G (hg19) ; chr11:g.119093253T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093253T>G , CM000673.2:g.119093253T>G	GRCh38
NC_000011.9:g.118963963T>G , CM000673.1:g.118963963T>G	GRCh37
NC_000011.8:g.118469173T>G	NCBI36
NG_008093.1:g.13377T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.891T>G	ENSP00000509288.1:p.Asp297Glu
ENST00000691144.1:n.3271T>G
ENST00000691249.1:n.1880T>G
ENST00000442944.7:c.1038T>G	ENSP00000392041.3:p.Asp346Glu
ENST00000640813.1:c.*293T>G	ENSP00000491061.1:n.*293T>G
ENST00000648026.1:c.950T>G	ENSP00000498044.1:n.950T>G
ENST00000648374.1:c.1005T>G	ENSP00000497255.1:p.Asp335Glu
ENST00000650101.1:c.987T>G	ENSP00000496970.1:p.Asp329Glu
ENST00000650307.1:n.1882T>G
ENST00000652429.1:c.1056T>G MANE Select	ENSP00000498786.1:p.Asp352Glu
ENST00000278715.7:c.1056T>G	ENSP00000278715.3:p.Asp352Glu
ENST00000392841.1:c.1005T>G	ENSP00000376584.1:p.Asp335Glu
ENST00000442944.6:c.1005T>G	ENSP00000392041.2:p.Asp335Glu
ENST00000537841.5:c.1005T>G	ENSP00000444730.1:p.Asp335Glu
ENST00000539045.1:n.555T>G
ENST00000542044.5:n.1501T>G
ENST00000542729.5:c.885T>G	ENSP00000443058.1:p.Asp295Glu
ENST00000543090.5:c.963T>G	ENSP00000445429.1:p.Asp321Glu
ENST00000543543.5:n.1531T>G
ENST00000544182.1:n.1505T>G
ENST00000544387.5:c.936T>G	ENSP00000438424.1:p.Asp312Glu
ENST00000546226.5:n.1818T>G
NM_000190.3:c.1056T>G	NP_000181.2:p.Asp352Glu
NM_001024382.1:c.1005T>G	NP_001019553.1:p.Asp335Glu
NM_001258208.1:c.936T>G	NP_001245137.1:p.Asp312Glu
NM_001258209.1:c.885T>G	NP_001245138.1:p.Asp295Glu
XM_005271531.1:c.1005T>G	XP_005271588.1:p.Asp335Glu
XM_005271532.1:c.1005T>G	XP_005271589.1:p.Asp335Glu
XM_005271533.2:c.1002T>G	XP_005271590.1:p.Asp334Glu
XM_011542796.1:c.891T>G	XP_011541098.1:p.Asp297Glu
NM_000190.4:c.1056T>G MANE Select	NP_000181.2:p.Asp352Glu
NM_001024382.2:c.1005T>G	NP_001019553.1:p.Asp335Glu
XM_005271533.3:c.1002T>G	XP_005271590.1:p.Asp334Glu
XM_017017629.1:c.1005T>G	XP_016873118.1:p.Asp335Glu
XM_024448460.1:c.882T>G	XP_024304228.1:p.Asp294Glu
NM_001258208.2:c.936T>G	NP_001245137.1:p.Asp312Glu
NM_001258209.2:c.885T>G	NP_001245138.1:p.Asp295Glu