Canonical Allele Identifier: CA382896715

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118962852A>T (hg19) ; chr11:g.119092142A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092142A>T , CM000673.2:g.119092142A>T	GRCh38
NC_000011.9:g.118962852A>T , CM000673.1:g.118962852A>T	GRCh37
NC_000011.8:g.118468062A>T	NCBI36
NG_008093.1:g.12266A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.465A>T	ENSP00000509288.1:p.Glu155Asp
ENST00000691144.1:n.2371A>T
ENST00000691249.1:n.1214A>T
ENST00000442944.7:c.612A>T	ENSP00000392041.3:p.Glu204Asp
ENST00000536813.6:c.579A>T	ENSP00000438726.2:p.Glu193Asp
ENST00000546302.6:c.552A>T	ENSP00000445599.1:p.Glu184Asp
ENST00000640813.1:c.462-262A>T	ENSP00000491061.1:n.462-262A>T
ENST00000648026.1:c.524A>T	ENSP00000498044.1:p.Asn175Ile
ENST00000648374.1:c.579A>T	ENSP00000497255.1:p.Glu193Asp
ENST00000648488.1:c.*103A>T	ENSP00000498079.1:n.*103A>T
ENST00000649823.1:n.847A>T
ENST00000650101.1:c.561A>T	ENSP00000496970.1:p.Glu187Asp
ENST00000650307.1:n.1456A>T
ENST00000652429.1:c.630A>T MANE Select	ENSP00000498786.1:p.Glu210Asp
ENST00000278715.7:c.630A>T	ENSP00000278715.3:p.Glu210Asp
ENST00000392841.1:c.579A>T	ENSP00000376584.1:p.Glu193Asp
ENST00000442944.6:c.579A>T	ENSP00000392041.2:p.Glu193Asp
ENST00000537841.5:c.579A>T	ENSP00000444730.1:p.Glu193Asp
ENST00000542044.5:n.1075A>T
ENST00000542345.5:n.768A>T
ENST00000542729.5:c.579A>T	ENSP00000443058.1:p.Glu193Asp
ENST00000543090.5:c.559-262A>T	ENSP00000445429.1:n.559-262A>T
ENST00000543543.5:n.865A>T
ENST00000544182.1:n.605A>T
ENST00000544387.5:c.630A>T	ENSP00000438424.1:p.Glu210Asp
ENST00000545621.5:c.*525A>T	ENSP00000444849.1:n.*525A>T
ENST00000546226.5:n.918A>T
ENST00000546302.5:c.552A>T	ENSP00000445599.1:p.Glu184Asp
NM_000190.3:c.630A>T	NP_000181.2:p.Glu210Asp
NM_001024382.1:c.579A>T	NP_001019553.1:p.Glu193Asp
NM_001258208.1:c.630A>T	NP_001245137.1:p.Glu210Asp
NM_001258209.1:c.579A>T	NP_001245138.1:p.Glu193Asp
XM_005271531.1:c.579A>T	XP_005271588.1:p.Glu193Asp
XM_005271532.1:c.579A>T	XP_005271589.1:p.Glu193Asp
XM_005271533.2:c.576A>T	XP_005271590.1:p.Glu192Asp
XM_011542796.1:c.465A>T	XP_011541098.1:p.Glu155Asp
NM_000190.4:c.630A>T MANE Select	NP_000181.2:p.Glu210Asp
NM_001024382.2:c.579A>T	NP_001019553.1:p.Glu193Asp
XM_005271533.3:c.576A>T	XP_005271590.1:p.Glu192Asp
XM_017017629.1:c.579A>T	XP_016873118.1:p.Glu193Asp
XM_024448460.1:c.576A>T	XP_024304228.1:p.Glu192Asp
NM_001258208.2:c.630A>T	NP_001245137.1:p.Glu210Asp
NM_001258209.2:c.579A>T	NP_001245138.1:p.Glu193Asp