Canonical Allele Identifier: CA382897513

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963160A>T (hg19) ; chr11:g.119092450A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092450A>T , CM000673.2:g.119092450A>T	GRCh38
NC_000011.9:g.118963160A>T , CM000673.1:g.118963160A>T	GRCh37
NC_000011.8:g.118468370A>T	NCBI36
NG_008093.1:g.12574A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.533A>T	ENSP00000509288.1:p.Asp178Val
ENST00000691144.1:n.2679A>T
ENST00000691249.1:n.1522A>T
ENST00000442944.7:c.680A>T	ENSP00000392041.3:p.Asp227Val
ENST00000536813.6:c.647A>T	ENSP00000438726.2:p.Asp216Val
ENST00000640813.1:c.508A>T	ENSP00000491061.1:p.Ile170Phe
ENST00000648026.1:c.592A>T	ENSP00000498044.1:p.Ile198Phe
ENST00000648374.1:c.647A>T	ENSP00000497255.1:p.Asp216Val
ENST00000649823.1:n.1155A>T
ENST00000650101.1:c.629A>T	ENSP00000496970.1:p.Asp210Val
ENST00000650307.1:n.1524A>T
ENST00000652429.1:c.698A>T MANE Select	ENSP00000498786.1:p.Asp233Val
ENST00000278715.7:c.698A>T	ENSP00000278715.3:p.Asp233Val
ENST00000392841.1:c.647A>T	ENSP00000376584.1:p.Asp216Val
ENST00000442944.6:c.647A>T	ENSP00000392041.2:p.Asp216Val
ENST00000537841.5:c.647A>T	ENSP00000444730.1:p.Asp216Val
ENST00000542044.5:n.1143A>T
ENST00000542729.5:c.600+287A>T	ENSP00000443058.1:n.600+287A>T
ENST00000543090.5:c.605A>T	ENSP00000445429.1:p.Asp202Val
ENST00000543543.5:n.1173A>T
ENST00000544182.1:n.913A>T
ENST00000544387.5:c.651+287A>T	ENSP00000438424.1:n.651+287A>T
ENST00000545621.5:c.*833A>T	ENSP00000444849.1:n.*833A>T
ENST00000546226.5:n.1226A>T
NM_000190.3:c.698A>T	NP_000181.2:p.Asp233Val
NM_001024382.1:c.647A>T	NP_001019553.1:p.Asp216Val
NM_001258208.1:c.651+287A>T	NP_001245137.1:n.651+287A>T
NM_001258209.1:c.600+287A>T	NP_001245138.1:n.600+287A>T
XM_005271531.1:c.647A>T	XP_005271588.1:p.Asp216Val
XM_005271532.1:c.647A>T	XP_005271589.1:p.Asp216Val
XM_005271533.2:c.644A>T	XP_005271590.1:p.Asp215Val
XM_011542796.1:c.533A>T	XP_011541098.1:p.Asp178Val
NM_000190.4:c.698A>T MANE Select	NP_000181.2:p.Asp233Val
NM_001024382.2:c.647A>T	NP_001019553.1:p.Asp216Val
XM_005271533.3:c.644A>T	XP_005271590.1:p.Asp215Val
XM_017017629.1:c.647A>T	XP_016873118.1:p.Asp216Val
XM_024448460.1:c.597+287A>T	XP_024304228.1:n.597+287A>T
NM_001258208.2:c.651+287A>T	NP_001245137.1:n.651+287A>T
NM_001258209.2:c.600+287A>T	NP_001245138.1:n.600+287A>T