Canonical Allele Identifier: CA382896710

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118962851A>T (hg19) ; chr11:g.119092141A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092141A>T , CM000673.2:g.119092141A>T	GRCh38
NC_000011.9:g.118962851A>T , CM000673.1:g.118962851A>T	GRCh37
NC_000011.8:g.118468061A>T	NCBI36
NG_008093.1:g.12265A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.464A>T	ENSP00000509288.1:p.Glu155Val
ENST00000691144.1:n.2370A>T
ENST00000691249.1:n.1213A>T
ENST00000442944.7:c.611A>T	ENSP00000392041.3:p.Glu204Val
ENST00000536813.6:c.578A>T	ENSP00000438726.2:p.Glu193Val
ENST00000546302.6:c.551A>T	ENSP00000445599.1:p.Glu184Val
ENST00000640813.1:c.462-263A>T	ENSP00000491061.1:n.462-263A>T
ENST00000648026.1:c.523A>T	ENSP00000498044.1:p.Asn175Tyr
ENST00000648374.1:c.578A>T	ENSP00000497255.1:p.Glu193Val
ENST00000648488.1:c.*102A>T	ENSP00000498079.1:n.*102A>T
ENST00000649823.1:n.846A>T
ENST00000650101.1:c.560A>T	ENSP00000496970.1:p.Glu187Val
ENST00000650307.1:n.1455A>T
ENST00000652429.1:c.629A>T MANE Select	ENSP00000498786.1:p.Glu210Val
ENST00000278715.7:c.629A>T	ENSP00000278715.3:p.Glu210Val
ENST00000392841.1:c.578A>T	ENSP00000376584.1:p.Glu193Val
ENST00000442944.6:c.578A>T	ENSP00000392041.2:p.Glu193Val
ENST00000537841.5:c.578A>T	ENSP00000444730.1:p.Glu193Val
ENST00000542044.5:n.1074A>T
ENST00000542345.5:n.767A>T
ENST00000542729.5:c.578A>T	ENSP00000443058.1:p.Glu193Val
ENST00000543090.5:c.559-263A>T	ENSP00000445429.1:n.559-263A>T
ENST00000543543.5:n.864A>T
ENST00000544182.1:n.604A>T
ENST00000544387.5:c.629A>T	ENSP00000438424.1:p.Glu210Val
ENST00000545621.5:c.*524A>T	ENSP00000444849.1:n.*524A>T
ENST00000546226.5:n.917A>T
ENST00000546302.5:c.551A>T	ENSP00000445599.1:p.Glu184Val
NM_000190.3:c.629A>T	NP_000181.2:p.Glu210Val
NM_001024382.1:c.578A>T	NP_001019553.1:p.Glu193Val
NM_001258208.1:c.629A>T	NP_001245137.1:p.Glu210Val
NM_001258209.1:c.578A>T	NP_001245138.1:p.Glu193Val
XM_005271531.1:c.578A>T	XP_005271588.1:p.Glu193Val
XM_005271532.1:c.578A>T	XP_005271589.1:p.Glu193Val
XM_005271533.2:c.575A>T	XP_005271590.1:p.Glu192Val
XM_011542796.1:c.464A>T	XP_011541098.1:p.Glu155Val
NM_000190.4:c.629A>T MANE Select	NP_000181.2:p.Glu210Val
NM_001024382.2:c.578A>T	NP_001019553.1:p.Glu193Val
XM_005271533.3:c.575A>T	XP_005271590.1:p.Glu192Val
XM_017017629.1:c.578A>T	XP_016873118.1:p.Glu193Val
XM_024448460.1:c.575A>T	XP_024304228.1:p.Glu192Val
NM_001258208.2:c.629A>T	NP_001245137.1:p.Glu210Val
NM_001258209.2:c.578A>T	NP_001245138.1:p.Glu193Val