Canonical Allele Identifier: CA382894967

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118962229T>G (hg19) ; chr11:g.119091519T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119091519T>G , CM000673.2:g.119091519T>G	GRCh38
NC_000011.9:g.118962229T>G , CM000673.1:g.118962229T>G	GRCh37
NC_000011.8:g.118467439T>G	NCBI36
NG_008093.1:g.11643T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.440T>G	ENSP00000509288.1:p.Val147Gly
ENST00000686690.1:n.1455T>G
ENST00000691144.1:n.2346T>G
ENST00000691249.1:n.1189T>G
ENST00000442944.7:c.587T>G	ENSP00000392041.3:p.Val196Gly
ENST00000534956.2:n.448-342T>G
ENST00000536813.6:c.554T>G	ENSP00000438726.2:p.Val185Gly
ENST00000546302.6:c.527T>G	ENSP00000445599.1:p.Val176Gly
ENST00000640813.1:c.448-342T>G	ENSP00000491061.1:n.448-342T>G
ENST00000648026.1:c.493-342T>G	ENSP00000498044.1:n.493-342T>G
ENST00000648374.1:c.554T>G	ENSP00000497255.1:p.Val185Gly
ENST00000648488.1:c.*85+263T>G	ENSP00000498079.1:n.*85+263T>G
ENST00000649823.1:n.822T>G
ENST00000649868.1:c.*207-342T>G	ENSP00000497548.1:n.*207-342T>G
ENST00000650101.1:c.536T>G	ENSP00000496970.1:p.Val179Gly
ENST00000650307.1:n.1431T>G
ENST00000652429.1:c.605T>G MANE Select	ENSP00000498786.1:p.Val202Gly
ENST00000278715.7:c.605T>G	ENSP00000278715.3:p.Val202Gly
ENST00000392841.1:c.554T>G	ENSP00000376584.1:p.Val185Gly
ENST00000442944.6:c.554T>G	ENSP00000392041.2:p.Val185Gly
ENST00000534956.1:n.415-342T>G
ENST00000535253.5:c.554T>G	ENSP00000442079.1:p.Val185Gly
ENST00000535793.5:c.*500T>G	ENSP00000439904.1:n.*500T>G
ENST00000537841.5:c.554T>G	ENSP00000444730.1:p.Val185Gly
ENST00000539986.5:c.554T>G	ENSP00000440092.1:p.Val185Gly
ENST00000542044.5:n.1050T>G
ENST00000542345.5:n.743T>G
ENST00000542729.5:c.554T>G	ENSP00000443058.1:p.Val185Gly
ENST00000542822.5:c.*541T>G	ENSP00000444817.1:n.*541T>G
ENST00000543090.5:c.551T>G	ENSP00000445429.1:p.Val184Gly
ENST00000543543.5:n.840T>G
ENST00000544360.5:n.573T>G
ENST00000544387.5:c.605T>G	ENSP00000438424.1:p.Val202Gly
ENST00000545621.5:c.*500T>G	ENSP00000444849.1:n.*500T>G
ENST00000546226.5:n.893T>G
ENST00000546302.5:c.527T>G	ENSP00000445599.1:p.Val176Gly
NM_000190.3:c.605T>G	NP_000181.2:p.Val202Gly
NM_001024382.1:c.554T>G	NP_001019553.1:p.Val185Gly
NM_001258208.1:c.605T>G	NP_001245137.1:p.Val202Gly
NM_001258209.1:c.554T>G	NP_001245138.1:p.Val185Gly
XM_005271531.1:c.554T>G	XP_005271588.1:p.Val185Gly
XM_005271532.1:c.554T>G	XP_005271589.1:p.Val185Gly
XM_005271533.2:c.551T>G	XP_005271590.1:p.Val184Gly
XM_011542796.1:c.440T>G	XP_011541098.1:p.Val147Gly
NM_000190.4:c.605T>G MANE Select	NP_000181.2:p.Val202Gly
NM_001024382.2:c.554T>G	NP_001019553.1:p.Val185Gly
XM_005271533.3:c.551T>G	XP_005271590.1:p.Val184Gly
XM_017017629.1:c.554T>G	XP_016873118.1:p.Val185Gly
XM_024448460.1:c.551T>G	XP_024304228.1:p.Val184Gly
NM_001258208.2:c.605T>G	NP_001245137.1:p.Val202Gly
NM_001258209.2:c.554T>G	NP_001245138.1:p.Val185Gly