Canonical Allele Identifier: CA382897437

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963151A>T (hg19) ; chr11:g.119092441A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092441A>T , CM000673.2:g.119092441A>T	GRCh38
NC_000011.9:g.118963151A>T , CM000673.1:g.118963151A>T	GRCh37
NC_000011.8:g.118468361A>T	NCBI36
NG_008093.1:g.12565A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.524A>T	ENSP00000509288.1:p.Asp175Val
ENST00000691144.1:n.2670A>T
ENST00000691249.1:n.1513A>T
ENST00000442944.7:c.671A>T	ENSP00000392041.3:p.Asp224Val
ENST00000536813.6:c.638A>T	ENSP00000438726.2:p.Asp213Val
ENST00000640813.1:c.499A>T	ENSP00000491061.1:p.Thr167Ser
ENST00000648026.1:c.583A>T	ENSP00000498044.1:p.Thr195Ser
ENST00000648374.1:c.638A>T	ENSP00000497255.1:p.Asp213Val
ENST00000649823.1:n.1146A>T
ENST00000650101.1:c.620A>T	ENSP00000496970.1:p.Asp207Val
ENST00000650307.1:n.1515A>T
ENST00000652429.1:c.689A>T MANE Select	ENSP00000498786.1:p.Asp230Val
ENST00000278715.7:c.689A>T	ENSP00000278715.3:p.Asp230Val
ENST00000392841.1:c.638A>T	ENSP00000376584.1:p.Asp213Val
ENST00000442944.6:c.638A>T	ENSP00000392041.2:p.Asp213Val
ENST00000537841.5:c.638A>T	ENSP00000444730.1:p.Asp213Val
ENST00000542044.5:n.1134A>T
ENST00000542729.5:c.600+278A>T	ENSP00000443058.1:n.600+278A>T
ENST00000543090.5:c.596A>T	ENSP00000445429.1:p.Asp199Val
ENST00000543543.5:n.1164A>T
ENST00000544182.1:n.904A>T
ENST00000544387.5:c.651+278A>T	ENSP00000438424.1:n.651+278A>T
ENST00000545621.5:c.*824A>T	ENSP00000444849.1:n.*824A>T
ENST00000546226.5:n.1217A>T
NM_000190.3:c.689A>T	NP_000181.2:p.Asp230Val
NM_001024382.1:c.638A>T	NP_001019553.1:p.Asp213Val
NM_001258208.1:c.651+278A>T	NP_001245137.1:n.651+278A>T
NM_001258209.1:c.600+278A>T	NP_001245138.1:n.600+278A>T
XM_005271531.1:c.638A>T	XP_005271588.1:p.Asp213Val
XM_005271532.1:c.638A>T	XP_005271589.1:p.Asp213Val
XM_005271533.2:c.635A>T	XP_005271590.1:p.Asp212Val
XM_011542796.1:c.524A>T	XP_011541098.1:p.Asp175Val
NM_000190.4:c.689A>T MANE Select	NP_000181.2:p.Asp230Val
NM_001024382.2:c.638A>T	NP_001019553.1:p.Asp213Val
XM_005271533.3:c.635A>T	XP_005271590.1:p.Asp212Val
XM_017017629.1:c.638A>T	XP_016873118.1:p.Asp213Val
XM_024448460.1:c.597+278A>T	XP_024304228.1:n.597+278A>T
NM_001258208.2:c.651+278A>T	NP_001245137.1:n.651+278A>T
NM_001258209.2:c.600+278A>T	NP_001245138.1:n.600+278A>T