Canonical Allele Identifier: CA382899438

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963878C>G (hg19) ; chr11:g.119093168C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093168C>G , CM000673.2:g.119093168C>G	GRCh38
NC_000011.9:g.118963878C>G , CM000673.1:g.118963878C>G	GRCh37
NC_000011.8:g.118469088C>G	NCBI36
NG_008093.1:g.13292C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.806C>G	ENSP00000509288.1:p.Pro269Arg
ENST00000691144.1:n.3186C>G
ENST00000691249.1:n.1795C>G
ENST00000442944.7:c.953C>G	ENSP00000392041.3:p.Pro318Arg
ENST00000640813.1:c.*208C>G	ENSP00000491061.1:n.*208C>G
ENST00000648026.1:c.865C>G	ENSP00000498044.1:n.865C>G
ENST00000648374.1:c.920C>G	ENSP00000497255.1:p.Pro307Arg
ENST00000650101.1:c.902C>G	ENSP00000496970.1:p.Pro301Arg
ENST00000650307.1:n.1797C>G
ENST00000652429.1:c.971C>G MANE Select	ENSP00000498786.1:p.Pro324Arg
ENST00000278715.7:c.971C>G	ENSP00000278715.3:p.Pro324Arg
ENST00000392841.1:c.920C>G	ENSP00000376584.1:p.Pro307Arg
ENST00000442944.6:c.920C>G	ENSP00000392041.2:p.Pro307Arg
ENST00000537841.5:c.920C>G	ENSP00000444730.1:p.Pro307Arg
ENST00000539045.1:n.470C>G
ENST00000542044.5:n.1416C>G
ENST00000542729.5:c.800C>G	ENSP00000443058.1:p.Pro267Arg
ENST00000543090.5:c.878C>G	ENSP00000445429.1:p.Pro293Arg
ENST00000543543.5:n.1446C>G
ENST00000544182.1:n.1420C>G
ENST00000544387.5:c.851C>G	ENSP00000438424.1:p.Pro284Arg
ENST00000546226.5:n.1733C>G
NM_000190.3:c.971C>G	NP_000181.2:p.Pro324Arg
NM_001024382.1:c.920C>G	NP_001019553.1:p.Pro307Arg
NM_001258208.1:c.851C>G	NP_001245137.1:p.Pro284Arg
NM_001258209.1:c.800C>G	NP_001245138.1:p.Pro267Arg
XM_005271531.1:c.920C>G	XP_005271588.1:p.Pro307Arg
XM_005271532.1:c.920C>G	XP_005271589.1:p.Pro307Arg
XM_005271533.2:c.917C>G	XP_005271590.1:p.Pro306Arg
XM_011542796.1:c.806C>G	XP_011541098.1:p.Pro269Arg
NM_000190.4:c.971C>G MANE Select	NP_000181.2:p.Pro324Arg
NM_001024382.2:c.920C>G	NP_001019553.1:p.Pro307Arg
XM_005271533.3:c.917C>G	XP_005271590.1:p.Pro306Arg
XM_017017629.1:c.920C>G	XP_016873118.1:p.Pro307Arg
XM_024448460.1:c.797C>G	XP_024304228.1:p.Pro266Arg
NM_001258208.2:c.851C>G	NP_001245137.1:p.Pro284Arg
NM_001258209.2:c.800C>G	NP_001245138.1:p.Pro267Arg