Canonical Allele Identifier: CA382898816

Gene: HMBS

Linked Data

• gnomAD v4: 11-119092976-T-G
• MyVariant Identifiers: chr11:g.118963686T>G (hg19) ; chr11:g.119092976T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092976T>G , CM000673.2:g.119092976T>G	GRCh38
NC_000011.9:g.118963686T>G , CM000673.1:g.118963686T>G	GRCh37
NC_000011.8:g.118468896T>G	NCBI36
NG_008093.1:g.13100T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.702T>G	ENSP00000509288.1:p.Asp234Glu
ENST00000691144.1:n.3082T>G
ENST00000691249.1:n.1691T>G
ENST00000442944.7:c.849T>G	ENSP00000392041.3:p.Asp283Glu
ENST00000640813.1:c.*104T>G	ENSP00000491061.1:n.*104T>G
ENST00000648026.1:c.761T>G	ENSP00000498044.1:n.761T>G
ENST00000648374.1:c.816T>G	ENSP00000497255.1:p.Asp272Glu
ENST00000650101.1:c.798T>G	ENSP00000496970.1:p.Asp266Glu
ENST00000650307.1:n.1693T>G
ENST00000652429.1:c.867T>G MANE Select	ENSP00000498786.1:p.Asp289Glu
ENST00000278715.7:c.867T>G	ENSP00000278715.3:p.Asp289Glu
ENST00000392841.1:c.816T>G	ENSP00000376584.1:p.Asp272Glu
ENST00000442944.6:c.816T>G	ENSP00000392041.2:p.Asp272Glu
ENST00000537841.5:c.816T>G	ENSP00000444730.1:p.Asp272Glu
ENST00000539045.1:n.366T>G
ENST00000542044.5:n.1312T>G
ENST00000542729.5:c.696T>G	ENSP00000443058.1:p.Asp232Glu
ENST00000543090.5:c.774T>G	ENSP00000445429.1:p.Asp258Glu
ENST00000543543.5:n.1342T>G
ENST00000544182.1:n.1316T>G
ENST00000544387.5:c.747T>G	ENSP00000438424.1:p.Asp249Glu
ENST00000546226.5:n.1629T>G
NM_000190.3:c.867T>G	NP_000181.2:p.Asp289Glu
NM_001024382.1:c.816T>G	NP_001019553.1:p.Asp272Glu
NM_001258208.1:c.747T>G	NP_001245137.1:p.Asp249Glu
NM_001258209.1:c.696T>G	NP_001245138.1:p.Asp232Glu
XM_005271531.1:c.816T>G	XP_005271588.1:p.Asp272Glu
XM_005271532.1:c.816T>G	XP_005271589.1:p.Asp272Glu
XM_005271533.2:c.813T>G	XP_005271590.1:p.Asp271Glu
XM_011542796.1:c.702T>G	XP_011541098.1:p.Asp234Glu
NM_000190.4:c.867T>G MANE Select	NP_000181.2:p.Asp289Glu
NM_001024382.2:c.816T>G	NP_001019553.1:p.Asp272Glu
XM_005271533.3:c.813T>G	XP_005271590.1:p.Asp271Glu
XM_017017629.1:c.816T>G	XP_016873118.1:p.Asp272Glu
XM_024448460.1:c.693T>G	XP_024304228.1:p.Asp231Glu
NM_001258208.2:c.747T>G	NP_001245137.1:p.Asp249Glu
NM_001258209.2:c.696T>G	NP_001245138.1:p.Asp232Glu