Canonical Allele Identifier: CA382896837

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118962866T>C (hg19) ; chr11:g.119092156T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092156T>C , CM000673.2:g.119092156T>C	GRCh38
NC_000011.9:g.118962866T>C , CM000673.1:g.118962866T>C	GRCh37
NC_000011.8:g.118468076T>C	NCBI36
NG_008093.1:g.12280T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.479T>C	ENSP00000509288.1:p.Val160Ala
ENST00000691144.1:n.2385T>C
ENST00000691249.1:n.1228T>C
ENST00000442944.7:c.626T>C	ENSP00000392041.3:p.Val209Ala
ENST00000536813.6:c.593T>C	ENSP00000438726.2:p.Val198Ala
ENST00000546302.6:c.566T>C	ENSP00000445599.1:p.Val189Ala
ENST00000640813.1:c.462-248T>C	ENSP00000491061.1:n.462-248T>C
ENST00000648026.1:c.538T>C	ENSP00000498044.1:p.Trp180Arg
ENST00000648374.1:c.593T>C	ENSP00000497255.1:p.Val198Ala
ENST00000648488.1:c.*117T>C	ENSP00000498079.1:n.*117T>C
ENST00000649823.1:n.861T>C
ENST00000650101.1:c.575T>C	ENSP00000496970.1:p.Val192Ala
ENST00000650307.1:n.1470T>C
ENST00000652429.1:c.644T>C MANE Select	ENSP00000498786.1:p.Val215Ala
ENST00000278715.7:c.644T>C	ENSP00000278715.3:p.Val215Ala
ENST00000392841.1:c.593T>C	ENSP00000376584.1:p.Val198Ala
ENST00000442944.6:c.593T>C	ENSP00000392041.2:p.Val198Ala
ENST00000537841.5:c.593T>C	ENSP00000444730.1:p.Val198Ala
ENST00000542044.5:n.1089T>C
ENST00000542345.5:n.782T>C
ENST00000542729.5:c.593T>C	ENSP00000443058.1:p.Val198Ala
ENST00000543090.5:c.559-248T>C	ENSP00000445429.1:n.559-248T>C
ENST00000543543.5:n.879T>C
ENST00000544182.1:n.619T>C
ENST00000544387.5:c.644T>C	ENSP00000438424.1:p.Val215Ala
ENST00000545621.5:c.*539T>C	ENSP00000444849.1:n.*539T>C
ENST00000546226.5:n.932T>C
ENST00000546302.5:c.566T>C	ENSP00000445599.1:p.Val189Ala
NM_000190.3:c.644T>C	NP_000181.2:p.Val215Ala
NM_001024382.1:c.593T>C	NP_001019553.1:p.Val198Ala
NM_001258208.1:c.644T>C	NP_001245137.1:p.Val215Ala
NM_001258209.1:c.593T>C	NP_001245138.1:p.Val198Ala
XM_005271531.1:c.593T>C	XP_005271588.1:p.Val198Ala
XM_005271532.1:c.593T>C	XP_005271589.1:p.Val198Ala
XM_005271533.2:c.590T>C	XP_005271590.1:p.Val197Ala
XM_011542796.1:c.479T>C	XP_011541098.1:p.Val160Ala
NM_000190.4:c.644T>C MANE Select	NP_000181.2:p.Val215Ala
NM_001024382.2:c.593T>C	NP_001019553.1:p.Val198Ala
XM_005271533.3:c.590T>C	XP_005271590.1:p.Val197Ala
XM_017017629.1:c.593T>C	XP_016873118.1:p.Val198Ala
XM_024448460.1:c.590T>C	XP_024304228.1:p.Val197Ala
NM_001258208.2:c.644T>C	NP_001245137.1:p.Val215Ala
NM_001258209.2:c.593T>C	NP_001245138.1:p.Val198Ala