Canonical Allele Identifier: CA382897937

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963212A>C (hg19) ; chr11:g.119092502A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092502A>C , CM000673.2:g.119092502A>C	GRCh38
NC_000011.9:g.118963212A>C , CM000673.1:g.118963212A>C	GRCh37
NC_000011.8:g.118468422A>C	NCBI36
NG_008093.1:g.12626A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.585A>C	ENSP00000509288.1:p.Glu195Asp
ENST00000691144.1:n.2731A>C
ENST00000691249.1:n.1574A>C
ENST00000442944.7:c.732A>C	ENSP00000392041.3:p.Glu244Asp
ENST00000640813.1:c.560A>C	ENSP00000491061.1:p.Lys187Thr
ENST00000648026.1:c.644A>C	ENSP00000498044.1:p.Lys215Thr
ENST00000648374.1:c.699A>C	ENSP00000497255.1:p.Glu233Asp
ENST00000649823.1:n.1207A>C
ENST00000650101.1:c.681A>C	ENSP00000496970.1:p.Glu227Asp
ENST00000650307.1:n.1576A>C
ENST00000652429.1:c.750A>C MANE Select	ENSP00000498786.1:p.Glu250Asp
ENST00000278715.7:c.750A>C	ENSP00000278715.3:p.Glu250Asp
ENST00000392841.1:c.699A>C	ENSP00000376584.1:p.Glu233Asp
ENST00000442944.6:c.699A>C	ENSP00000392041.2:p.Glu233Asp
ENST00000537841.5:c.699A>C	ENSP00000444730.1:p.Glu233Asp
ENST00000542044.5:n.1195A>C
ENST00000542729.5:c.601-256A>C	ENSP00000443058.1:n.601-256A>C
ENST00000543090.5:c.657A>C	ENSP00000445429.1:p.Glu219Asp
ENST00000543543.5:n.1225A>C
ENST00000544182.1:n.965A>C
ENST00000544387.5:c.652-256A>C	ENSP00000438424.1:n.652-256A>C
ENST00000546226.5:n.1278A>C
NM_000190.3:c.750A>C	NP_000181.2:p.Glu250Asp
NM_001024382.1:c.699A>C	NP_001019553.1:p.Glu233Asp
NM_001258208.1:c.652-256A>C	NP_001245137.1:n.652-256A>C
NM_001258209.1:c.601-256A>C	NP_001245138.1:n.601-256A>C
XM_005271531.1:c.699A>C	XP_005271588.1:p.Glu233Asp
XM_005271532.1:c.699A>C	XP_005271589.1:p.Glu233Asp
XM_005271533.2:c.696A>C	XP_005271590.1:p.Glu232Asp
XM_011542796.1:c.585A>C	XP_011541098.1:p.Glu195Asp
NM_000190.4:c.750A>C MANE Select	NP_000181.2:p.Glu250Asp
NM_001024382.2:c.699A>C	NP_001019553.1:p.Glu233Asp
XM_005271533.3:c.696A>C	XP_005271590.1:p.Glu232Asp
XM_017017629.1:c.699A>C	XP_016873118.1:p.Glu233Asp
XM_024448460.1:c.598-256A>C	XP_024304228.1:n.598-256A>C
NM_001258208.2:c.652-256A>C	NP_001245137.1:n.652-256A>C
NM_001258209.2:c.601-256A>C	NP_001245138.1:n.601-256A>C