Canonical Allele Identifier: CA6314121

Gene: HMBS

Linked Data

• ClinVar Variation Id: 302731
• ClinVar RCV Id: RCV000353646 ; RCV001859798
• dbSNP Id: rs774594843
• ExAC: 11:118962837 C / G
• gnomAD v2: 11-118962837-C-G
• gnomAD v3: 11-119092127-C-G
• gnomAD v4: 11-119092127-C-G
• MyVariant Identifiers: chr11:g.118962837C>G (hg19) ; chr11:g.119092127C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092127C>G , CM000673.2:g.119092127C>G	GRCh38
NC_000011.9:g.118962837C>G , CM000673.1:g.118962837C>G	GRCh37
NC_000011.8:g.118468047C>G	NCBI36
NG_008093.1:g.12251C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.450C>G	ENSP00000509288.1:p.Ile150Met
ENST00000691144.1:n.2356C>G
ENST00000691249.1:n.1199C>G
ENST00000442944.7:c.597C>G	ENSP00000392041.3:p.Ile199Met
ENST00000536813.6:c.564C>G	ENSP00000438726.2:p.Ile188Met
ENST00000546302.6:c.537C>G	ENSP00000445599.1:p.Ile179Met
ENST00000640813.1:c.461+253C>G	ENSP00000491061.1:n.461+253C>G
ENST00000648026.1:c.509C>G	ENSP00000498044.1:p.Ser170Cys
ENST00000648374.1:c.564C>G	ENSP00000497255.1:p.Ile188Met
ENST00000648488.1:c.*88C>G	ENSP00000498079.1:n.*88C>G
ENST00000649823.1:n.832C>G
ENST00000650101.1:c.546C>G	ENSP00000496970.1:p.Ile182Met
ENST00000650307.1:n.1441C>G
ENST00000652429.1:c.615C>G MANE Select	ENSP00000498786.1:p.Ile205Met
ENST00000278715.7:c.615C>G	ENSP00000278715.3:p.Ile205Met
ENST00000392841.1:c.564C>G	ENSP00000376584.1:p.Ile188Met
ENST00000442944.6:c.564C>G	ENSP00000392041.2:p.Ile188Met
ENST00000537841.5:c.564C>G	ENSP00000444730.1:p.Ile188Met
ENST00000542044.5:n.1060C>G
ENST00000542345.5:n.753C>G
ENST00000542729.5:c.564C>G	ENSP00000443058.1:p.Ile188Met
ENST00000543090.5:c.559-277C>G	ENSP00000445429.1:n.559-277C>G
ENST00000543543.5:n.850C>G
ENST00000544182.1:n.590C>G
ENST00000544387.5:c.615C>G	ENSP00000438424.1:p.Ile205Met
ENST00000545621.5:c.*510C>G	ENSP00000444849.1:n.*510C>G
ENST00000546226.5:n.903C>G
ENST00000546302.5:c.537C>G	ENSP00000445599.1:p.Ile179Met
NM_000190.3:c.615C>G	NP_000181.2:p.Ile205Met
NM_001024382.1:c.564C>G	NP_001019553.1:p.Ile188Met
NM_001258208.1:c.615C>G	NP_001245137.1:p.Ile205Met
NM_001258209.1:c.564C>G	NP_001245138.1:p.Ile188Met
XM_005271531.1:c.564C>G	XP_005271588.1:p.Ile188Met
XM_005271532.1:c.564C>G	XP_005271589.1:p.Ile188Met
XM_005271533.2:c.561C>G	XP_005271590.1:p.Ile187Met
XM_011542796.1:c.450C>G	XP_011541098.1:p.Ile150Met
NM_000190.4:c.615C>G MANE Select	NP_000181.2:p.Ile205Met
NM_001024382.2:c.564C>G	NP_001019553.1:p.Ile188Met
XM_005271533.3:c.561C>G	XP_005271590.1:p.Ile187Met
XM_017017629.1:c.564C>G	XP_016873118.1:p.Ile188Met
XM_024448460.1:c.561C>G	XP_024304228.1:p.Ile187Met
NM_001258208.2:c.615C>G	NP_001245137.1:p.Ile205Met
NM_001258209.2:c.564C>G	NP_001245138.1:p.Ile188Met