Canonical Allele Identifier: CA382898077

Gene: HMBS

Linked Data

• ClinVar Variation Id: 2444646
• ClinVar RCV Id: RCV003154412
• gnomAD v4: 11-119092519-A-G
• MyVariant Identifiers: chr11:g.118963229A>G (hg19) ; chr11:g.119092519A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092519A>G , CM000673.2:g.119092519A>G	GRCh38
NC_000011.9:g.118963229A>G , CM000673.1:g.118963229A>G	GRCh37
NC_000011.8:g.118468439A>G	NCBI36
NG_008093.1:g.12643A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.602A>G	ENSP00000509288.1:p.His201Arg
ENST00000691144.1:n.2748A>G
ENST00000691249.1:n.1591A>G
ENST00000442944.7:c.749A>G	ENSP00000392041.3:p.His250Arg
ENST00000640813.1:c.*4A>G	ENSP00000491061.1:n.*4A>G
ENST00000648026.1:c.661A>G	ENSP00000498044.1:n.661A>G
ENST00000648374.1:c.716A>G	ENSP00000497255.1:p.His239Arg
ENST00000649823.1:n.1224A>G
ENST00000650101.1:c.698A>G	ENSP00000496970.1:p.His233Arg
ENST00000650307.1:n.1593A>G
ENST00000652429.1:c.767A>G MANE Select	ENSP00000498786.1:p.His256Arg
ENST00000278715.7:c.767A>G	ENSP00000278715.3:p.His256Arg
ENST00000392841.1:c.716A>G	ENSP00000376584.1:p.His239Arg
ENST00000442944.6:c.716A>G	ENSP00000392041.2:p.His239Arg
ENST00000537841.5:c.716A>G	ENSP00000444730.1:p.His239Arg
ENST00000542044.5:n.1212A>G
ENST00000542729.5:c.601-239A>G	ENSP00000443058.1:n.601-239A>G
ENST00000543090.5:c.674A>G	ENSP00000445429.1:p.His225Arg
ENST00000543543.5:n.1242A>G
ENST00000544182.1:n.982A>G
ENST00000544387.5:c.652-239A>G	ENSP00000438424.1:n.652-239A>G
ENST00000546226.5:n.1295A>G
NM_000190.3:c.767A>G	NP_000181.2:p.His256Arg
NM_001024382.1:c.716A>G	NP_001019553.1:p.His239Arg
NM_001258208.1:c.652-239A>G	NP_001245137.1:n.652-239A>G
NM_001258209.1:c.601-239A>G	NP_001245138.1:n.601-239A>G
XM_005271531.1:c.716A>G	XP_005271588.1:p.His239Arg
XM_005271532.1:c.716A>G	XP_005271589.1:p.His239Arg
XM_005271533.2:c.713A>G	XP_005271590.1:p.His238Arg
XM_011542796.1:c.602A>G	XP_011541098.1:p.His201Arg
NM_000190.4:c.767A>G MANE Select	NP_000181.2:p.His256Arg
NM_001024382.2:c.716A>G	NP_001019553.1:p.His239Arg
XM_005271533.3:c.713A>G	XP_005271590.1:p.His238Arg
XM_017017629.1:c.716A>G	XP_016873118.1:p.His239Arg
XM_024448460.1:c.598-239A>G	XP_024304228.1:n.598-239A>G
NM_001258208.2:c.652-239A>G	NP_001245137.1:n.652-239A>G
NM_001258209.2:c.601-239A>G	NP_001245138.1:n.601-239A>G