Canonical Allele Identifier: CA382899119

Gene: HMBS

Linked Data

• ClinVar Variation Id: 1010357
• ClinVar RCV Id: RCV001307970
• dbSNP Id: rs1390879559
• gnomAD v2: 11-118963833-C-G
• gnomAD v3: 11-119093123-C-G
• gnomAD v4: 11-119093123-C-G
• MyVariant Identifiers: chr11:g.118963833C>G (hg19) ; chr11:g.119093123C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093123C>G , CM000673.2:g.119093123C>G	GRCh38
NC_000011.9:g.118963833C>G , CM000673.1:g.118963833C>G	GRCh37
NC_000011.8:g.118469043C>G	NCBI36
NG_008093.1:g.13247C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.761C>G	ENSP00000509288.1:p.Pro254Arg
ENST00000691144.1:n.3141C>G
ENST00000691249.1:n.1750C>G
ENST00000442944.7:c.908C>G	ENSP00000392041.3:p.Pro303Arg
ENST00000640813.1:c.*163C>G	ENSP00000491061.1:n.*163C>G
ENST00000648026.1:c.820C>G	ENSP00000498044.1:n.820C>G
ENST00000648374.1:c.875C>G	ENSP00000497255.1:p.Pro292Arg
ENST00000650101.1:c.857C>G	ENSP00000496970.1:p.Pro286Arg
ENST00000650307.1:n.1752C>G
ENST00000652429.1:c.926C>G MANE Select	ENSP00000498786.1:p.Pro309Arg
ENST00000278715.7:c.926C>G	ENSP00000278715.3:p.Pro309Arg
ENST00000392841.1:c.875C>G	ENSP00000376584.1:p.Pro292Arg
ENST00000442944.6:c.875C>G	ENSP00000392041.2:p.Pro292Arg
ENST00000537841.5:c.875C>G	ENSP00000444730.1:p.Pro292Arg
ENST00000539045.1:n.425C>G
ENST00000542044.5:n.1371C>G
ENST00000542729.5:c.755C>G	ENSP00000443058.1:p.Pro252Arg
ENST00000543090.5:c.833C>G	ENSP00000445429.1:p.Pro278Arg
ENST00000543543.5:n.1401C>G
ENST00000544182.1:n.1375C>G
ENST00000544387.5:c.806C>G	ENSP00000438424.1:p.Pro269Arg
ENST00000546226.5:n.1688C>G
NM_000190.3:c.926C>G	NP_000181.2:p.Pro309Arg
NM_001024382.1:c.875C>G	NP_001019553.1:p.Pro292Arg
NM_001258208.1:c.806C>G	NP_001245137.1:p.Pro269Arg
NM_001258209.1:c.755C>G	NP_001245138.1:p.Pro252Arg
XM_005271531.1:c.875C>G	XP_005271588.1:p.Pro292Arg
XM_005271532.1:c.875C>G	XP_005271589.1:p.Pro292Arg
XM_005271533.2:c.872C>G	XP_005271590.1:p.Pro291Arg
XM_011542796.1:c.761C>G	XP_011541098.1:p.Pro254Arg
NM_000190.4:c.926C>G MANE Select	NP_000181.2:p.Pro309Arg
NM_001024382.2:c.875C>G	NP_001019553.1:p.Pro292Arg
XM_005271533.3:c.872C>G	XP_005271590.1:p.Pro291Arg
XM_017017629.1:c.875C>G	XP_016873118.1:p.Pro292Arg
XM_024448460.1:c.752C>G	XP_024304228.1:p.Pro251Arg
NM_001258208.2:c.806C>G	NP_001245137.1:p.Pro269Arg
NM_001258209.2:c.755C>G	NP_001245138.1:p.Pro252Arg