Canonical Allele Identifier: CA382897177

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963130A>C (hg19) ; chr11:g.119092420A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092420A>C , CM000673.2:g.119092420A>C	GRCh38
NC_000011.9:g.118963130A>C , CM000673.1:g.118963130A>C	GRCh37
NC_000011.8:g.118468340A>C	NCBI36
NG_008093.1:g.12544A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.503A>C	ENSP00000509288.1:p.Glu168Ala
ENST00000691144.1:n.2649A>C
ENST00000691249.1:n.1492A>C
ENST00000442944.7:c.650A>C	ENSP00000392041.3:p.Glu217Ala
ENST00000536813.6:c.617A>C	ENSP00000438726.2:p.Glu206Ala
ENST00000640813.1:c.478A>C	ENSP00000491061.1:p.Lys160Gln
ENST00000648026.1:c.562A>C	ENSP00000498044.1:p.Lys188Gln
ENST00000648374.1:c.617A>C	ENSP00000497255.1:p.Glu206Ala
ENST00000649823.1:n.1125A>C
ENST00000650101.1:c.599A>C	ENSP00000496970.1:p.Glu200Ala
ENST00000650307.1:n.1494A>C
ENST00000652429.1:c.668A>C MANE Select	ENSP00000498786.1:p.Glu223Ala
ENST00000278715.7:c.668A>C	ENSP00000278715.3:p.Glu223Ala
ENST00000392841.1:c.617A>C	ENSP00000376584.1:p.Glu206Ala
ENST00000442944.6:c.617A>C	ENSP00000392041.2:p.Glu206Ala
ENST00000537841.5:c.617A>C	ENSP00000444730.1:p.Glu206Ala
ENST00000542044.5:n.1113A>C
ENST00000542729.5:c.600+257A>C	ENSP00000443058.1:n.600+257A>C
ENST00000543090.5:c.575A>C	ENSP00000445429.1:p.Glu192Ala
ENST00000543543.5:n.1143A>C
ENST00000544182.1:n.883A>C
ENST00000544387.5:c.651+257A>C	ENSP00000438424.1:n.651+257A>C
ENST00000545621.5:c.*803A>C	ENSP00000444849.1:n.*803A>C
ENST00000546226.5:n.1196A>C
NM_000190.3:c.668A>C	NP_000181.2:p.Glu223Ala
NM_001024382.1:c.617A>C	NP_001019553.1:p.Glu206Ala
NM_001258208.1:c.651+257A>C	NP_001245137.1:n.651+257A>C
NM_001258209.1:c.600+257A>C	NP_001245138.1:n.600+257A>C
XM_005271531.1:c.617A>C	XP_005271588.1:p.Glu206Ala
XM_005271532.1:c.617A>C	XP_005271589.1:p.Glu206Ala
XM_005271533.2:c.614A>C	XP_005271590.1:p.Glu205Ala
XM_011542796.1:c.503A>C	XP_011541098.1:p.Glu168Ala
NM_000190.4:c.668A>C MANE Select	NP_000181.2:p.Glu223Ala
NM_001024382.2:c.617A>C	NP_001019553.1:p.Glu206Ala
XM_005271533.3:c.614A>C	XP_005271590.1:p.Glu205Ala
XM_017017629.1:c.617A>C	XP_016873118.1:p.Glu206Ala
XM_024448460.1:c.597+257A>C	XP_024304228.1:n.597+257A>C
NM_001258208.2:c.651+257A>C	NP_001245137.1:n.651+257A>C
NM_001258209.2:c.600+257A>C	NP_001245138.1:n.600+257A>C