Canonical Allele Identifier: CA382897212

Gene: HMBS

Linked Data

• gnomAD v4: 11-119092425-C-G
• MyVariant Identifiers: chr11:g.118963135C>G (hg19) ; chr11:g.119092425C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092425C>G , CM000673.2:g.119092425C>G	GRCh38
NC_000011.9:g.118963135C>G , CM000673.1:g.118963135C>G	GRCh37
NC_000011.8:g.118468345C>G	NCBI36
NG_008093.1:g.12549C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.508C>G	ENSP00000509288.1:p.Arg170Gly
ENST00000691144.1:n.2654C>G
ENST00000691249.1:n.1497C>G
ENST00000442944.7:c.655C>G	ENSP00000392041.3:p.Arg219Gly
ENST00000536813.6:c.622C>G	ENSP00000438726.2:p.Arg208Gly
ENST00000640813.1:c.483C>G	ENSP00000491061.1:p.Cys161Trp
ENST00000648026.1:c.567C>G	ENSP00000498044.1:p.Cys189Trp
ENST00000648374.1:c.622C>G	ENSP00000497255.1:p.Arg208Gly
ENST00000649823.1:n.1130C>G
ENST00000650101.1:c.604C>G	ENSP00000496970.1:p.Arg202Gly
ENST00000650307.1:n.1499C>G
ENST00000652429.1:c.673C>G MANE Select	ENSP00000498786.1:p.Arg225Gly
ENST00000278715.7:c.673C>G	ENSP00000278715.3:p.Arg225Gly
ENST00000392841.1:c.622C>G	ENSP00000376584.1:p.Arg208Gly
ENST00000442944.6:c.622C>G	ENSP00000392041.2:p.Arg208Gly
ENST00000537841.5:c.622C>G	ENSP00000444730.1:p.Arg208Gly
ENST00000542044.5:n.1118C>G
ENST00000542729.5:c.600+262C>G	ENSP00000443058.1:n.600+262C>G
ENST00000543090.5:c.580C>G	ENSP00000445429.1:p.Arg194Gly
ENST00000543543.5:n.1148C>G
ENST00000544182.1:n.888C>G
ENST00000544387.5:c.651+262C>G	ENSP00000438424.1:n.651+262C>G
ENST00000545621.5:c.*808C>G	ENSP00000444849.1:n.*808C>G
ENST00000546226.5:n.1201C>G
NM_000190.3:c.673C>G	NP_000181.2:p.Arg225Gly
NM_001024382.1:c.622C>G	NP_001019553.1:p.Arg208Gly
NM_001258208.1:c.651+262C>G	NP_001245137.1:n.651+262C>G
NM_001258209.1:c.600+262C>G	NP_001245138.1:n.600+262C>G
XM_005271531.1:c.622C>G	XP_005271588.1:p.Arg208Gly
XM_005271532.1:c.622C>G	XP_005271589.1:p.Arg208Gly
XM_005271533.2:c.619C>G	XP_005271590.1:p.Arg207Gly
XM_011542796.1:c.508C>G	XP_011541098.1:p.Arg170Gly
NM_000190.4:c.673C>G MANE Select	NP_000181.2:p.Arg225Gly
NM_001024382.2:c.622C>G	NP_001019553.1:p.Arg208Gly
XM_005271533.3:c.619C>G	XP_005271590.1:p.Arg207Gly
XM_017017629.1:c.622C>G	XP_016873118.1:p.Arg208Gly
XM_024448460.1:c.597+262C>G	XP_024304228.1:n.597+262C>G
NM_001258208.2:c.651+262C>G	NP_001245137.1:n.651+262C>G
NM_001258209.2:c.600+262C>G	NP_001245138.1:n.600+262C>G