Canonical Allele Identifier: CA382898782

Gene: HMBS

Linked Data

• dbSNP Id: rs778353358
• gnomAD v2: 11-118963677-C-G
• gnomAD v4: 11-119092967-C-G
• MyVariant Identifiers: chr11:g.118963677C>G (hg19) ; chr11:g.119092967C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092967C>G , CM000673.2:g.119092967C>G	GRCh38
NC_000011.9:g.118963677C>G , CM000673.1:g.118963677C>G	GRCh37
NC_000011.8:g.118468887C>G	NCBI36
NG_008093.1:g.13091C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.693C>G	ENSP00000509288.1:p.Asp231Glu
ENST00000691144.1:n.3073C>G
ENST00000691249.1:n.1682C>G
ENST00000442944.7:c.840C>G	ENSP00000392041.3:p.Asp280Glu
ENST00000640813.1:c.*95C>G	ENSP00000491061.1:n.*95C>G
ENST00000648026.1:c.752C>G	ENSP00000498044.1:n.752C>G
ENST00000648374.1:c.807C>G	ENSP00000497255.1:p.Asp269Glu
ENST00000650101.1:c.789C>G	ENSP00000496970.1:p.Asp263Glu
ENST00000650307.1:n.1684C>G
ENST00000652429.1:c.858C>G MANE Select	ENSP00000498786.1:p.Asp286Glu
ENST00000278715.7:c.858C>G	ENSP00000278715.3:p.Asp286Glu
ENST00000392841.1:c.807C>G	ENSP00000376584.1:p.Asp269Glu
ENST00000442944.6:c.807C>G	ENSP00000392041.2:p.Asp269Glu
ENST00000537841.5:c.807C>G	ENSP00000444730.1:p.Asp269Glu
ENST00000539045.1:n.357C>G
ENST00000542044.5:n.1303C>G
ENST00000542729.5:c.687C>G	ENSP00000443058.1:p.Asp229Glu
ENST00000543090.5:c.765C>G	ENSP00000445429.1:p.Asp255Glu
ENST00000543543.5:n.1333C>G
ENST00000544182.1:n.1307C>G
ENST00000544387.5:c.738C>G	ENSP00000438424.1:p.Asp246Glu
ENST00000546226.5:n.1620C>G
NM_000190.3:c.858C>G	NP_000181.2:p.Asp286Glu
NM_001024382.1:c.807C>G	NP_001019553.1:p.Asp269Glu
NM_001258208.1:c.738C>G	NP_001245137.1:p.Asp246Glu
NM_001258209.1:c.687C>G	NP_001245138.1:p.Asp229Glu
XM_005271531.1:c.807C>G	XP_005271588.1:p.Asp269Glu
XM_005271532.1:c.807C>G	XP_005271589.1:p.Asp269Glu
XM_005271533.2:c.804C>G	XP_005271590.1:p.Asp268Glu
XM_011542796.1:c.693C>G	XP_011541098.1:p.Asp231Glu
NM_000190.4:c.858C>G MANE Select	NP_000181.2:p.Asp286Glu
NM_001024382.2:c.807C>G	NP_001019553.1:p.Asp269Glu
XM_005271533.3:c.804C>G	XP_005271590.1:p.Asp268Glu
XM_017017629.1:c.807C>G	XP_016873118.1:p.Asp269Glu
XM_024448460.1:c.684C>G	XP_024304228.1:p.Asp228Glu
NM_001258208.2:c.738C>G	NP_001245137.1:p.Asp246Glu
NM_001258209.2:c.687C>G	NP_001245138.1:p.Asp229Glu