Canonical Allele Identifier: CA382898832

Gene: HMBS

Linked Data

• gnomAD v4: 11-119092979-C-G
• MyVariant Identifiers: chr11:g.118963689C>G (hg19) ; chr11:g.119092979C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092979C>G , CM000673.2:g.119092979C>G	GRCh38
NC_000011.9:g.118963689C>G , CM000673.1:g.118963689C>G	GRCh37
NC_000011.8:g.118468899C>G	NCBI36
NG_008093.1:g.13103C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.705C>G	ENSP00000509288.1:p.Ser235Arg
ENST00000691144.1:n.3085C>G
ENST00000691249.1:n.1694C>G
ENST00000442944.7:c.852C>G	ENSP00000392041.3:p.Ser284Arg
ENST00000640813.1:c.*107C>G	ENSP00000491061.1:n.*107C>G
ENST00000648026.1:c.764C>G	ENSP00000498044.1:n.764C>G
ENST00000648374.1:c.819C>G	ENSP00000497255.1:p.Ser273Arg
ENST00000650101.1:c.801C>G	ENSP00000496970.1:p.Ser267Arg
ENST00000650307.1:n.1696C>G
ENST00000652429.1:c.870C>G MANE Select	ENSP00000498786.1:p.Ser290Arg
ENST00000278715.7:c.870C>G	ENSP00000278715.3:p.Ser290Arg
ENST00000392841.1:c.819C>G	ENSP00000376584.1:p.Ser273Arg
ENST00000442944.6:c.819C>G	ENSP00000392041.2:p.Ser273Arg
ENST00000537841.5:c.819C>G	ENSP00000444730.1:p.Ser273Arg
ENST00000539045.1:n.369C>G
ENST00000542044.5:n.1315C>G
ENST00000542729.5:c.699C>G	ENSP00000443058.1:p.Ser233Arg
ENST00000543090.5:c.777C>G	ENSP00000445429.1:p.Ser259Arg
ENST00000543543.5:n.1345C>G
ENST00000544182.1:n.1319C>G
ENST00000544387.5:c.750C>G	ENSP00000438424.1:p.Ser250Arg
ENST00000546226.5:n.1632C>G
NM_000190.3:c.870C>G	NP_000181.2:p.Ser290Arg
NM_001024382.1:c.819C>G	NP_001019553.1:p.Ser273Arg
NM_001258208.1:c.750C>G	NP_001245137.1:p.Ser250Arg
NM_001258209.1:c.699C>G	NP_001245138.1:p.Ser233Arg
XM_005271531.1:c.819C>G	XP_005271588.1:p.Ser273Arg
XM_005271532.1:c.819C>G	XP_005271589.1:p.Ser273Arg
XM_005271533.2:c.816C>G	XP_005271590.1:p.Ser272Arg
XM_011542796.1:c.705C>G	XP_011541098.1:p.Ser235Arg
NM_000190.4:c.870C>G MANE Select	NP_000181.2:p.Ser290Arg
NM_001024382.2:c.819C>G	NP_001019553.1:p.Ser273Arg
XM_005271533.3:c.816C>G	XP_005271590.1:p.Ser272Arg
XM_017017629.1:c.819C>G	XP_016873118.1:p.Ser273Arg
XM_024448460.1:c.696C>G	XP_024304228.1:p.Ser232Arg
NM_001258208.2:c.750C>G	NP_001245137.1:p.Ser250Arg
NM_001258209.2:c.699C>G	NP_001245138.1:p.Ser233Arg