Canonical Allele Identifier: CA382897128

Gene: HMBS

Linked Data

• ClinVar Variation Id: 664482
• ClinVar RCV Id: RCV000822584
• dbSNP Id: rs1592219522
• MyVariant Identifiers: chr11:g.118963124G>A (hg19) ; chr11:g.119092414G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092414G>A , CM000673.2:g.119092414G>A	GRCh38
NC_000011.9:g.118963124G>A , CM000673.1:g.118963124G>A	GRCh37
NC_000011.8:g.118468334G>A	NCBI36
NG_008093.1:g.12538G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.497G>A	ENSP00000509288.1:p.Gly166Asp
ENST00000691144.1:n.2643G>A
ENST00000691249.1:n.1486G>A
ENST00000442944.7:c.644G>A	ENSP00000392041.3:p.Gly215Asp
ENST00000536813.6:c.611G>A	ENSP00000438726.2:p.Gly204Asp
ENST00000640813.1:c.472G>A	ENSP00000491061.1:p.Ala158Thr
ENST00000648026.1:c.556G>A	ENSP00000498044.1:p.Ala186Thr
ENST00000648374.1:c.611G>A	ENSP00000497255.1:p.Gly204Asp
ENST00000649823.1:n.1119G>A
ENST00000650101.1:c.593G>A	ENSP00000496970.1:p.Gly198Asp
ENST00000650307.1:n.1488G>A
ENST00000652429.1:c.662G>A MANE Select	ENSP00000498786.1:p.Gly221Asp
ENST00000278715.7:c.662G>A	ENSP00000278715.3:p.Gly221Asp
ENST00000392841.1:c.611G>A	ENSP00000376584.1:p.Gly204Asp
ENST00000442944.6:c.611G>A	ENSP00000392041.2:p.Gly204Asp
ENST00000537841.5:c.611G>A	ENSP00000444730.1:p.Gly204Asp
ENST00000542044.5:n.1107G>A
ENST00000542729.5:c.600+251G>A	ENSP00000443058.1:n.600+251G>A
ENST00000543090.5:c.569G>A	ENSP00000445429.1:p.Gly190Asp
ENST00000543543.5:n.1137G>A
ENST00000544182.1:n.877G>A
ENST00000544387.5:c.651+251G>A	ENSP00000438424.1:n.651+251G>A
ENST00000545621.5:c.*797G>A	ENSP00000444849.1:n.*797G>A
ENST00000546226.5:n.1190G>A
NM_000190.3:c.662G>A	NP_000181.2:p.Gly221Asp
NM_001024382.1:c.611G>A	NP_001019553.1:p.Gly204Asp
NM_001258208.1:c.651+251G>A	NP_001245137.1:n.651+251G>A
NM_001258209.1:c.600+251G>A	NP_001245138.1:n.600+251G>A
XM_005271531.1:c.611G>A	XP_005271588.1:p.Gly204Asp
XM_005271532.1:c.611G>A	XP_005271589.1:p.Gly204Asp
XM_005271533.2:c.608G>A	XP_005271590.1:p.Gly203Asp
XM_011542796.1:c.497G>A	XP_011541098.1:p.Gly166Asp
NM_000190.4:c.662G>A MANE Select	NP_000181.2:p.Gly221Asp
NM_001024382.2:c.611G>A	NP_001019553.1:p.Gly204Asp
XM_005271533.3:c.608G>A	XP_005271590.1:p.Gly203Asp
XM_017017629.1:c.611G>A	XP_016873118.1:p.Gly204Asp
XM_024448460.1:c.597+251G>A	XP_024304228.1:n.597+251G>A
NM_001258208.2:c.651+251G>A	NP_001245137.1:n.651+251G>A
NM_001258209.2:c.600+251G>A	NP_001245138.1:n.600+251G>A