Canonical Allele Identifier: CA382899157

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963843C>A (hg19) ; chr11:g.119093133C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093133C>A , CM000673.2:g.119093133C>A	GRCh38
NC_000011.9:g.118963843C>A , CM000673.1:g.118963843C>A	GRCh37
NC_000011.8:g.118469053C>A	NCBI36
NG_008093.1:g.13257C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.771C>A	ENSP00000509288.1:p.Asp257Glu
ENST00000691144.1:n.3151C>A
ENST00000691249.1:n.1760C>A
ENST00000442944.7:c.918C>A	ENSP00000392041.3:p.Asp306Glu
ENST00000640813.1:c.*173C>A	ENSP00000491061.1:n.*173C>A
ENST00000648026.1:c.830C>A	ENSP00000498044.1:n.830C>A
ENST00000648374.1:c.885C>A	ENSP00000497255.1:p.Asp295Glu
ENST00000650101.1:c.867C>A	ENSP00000496970.1:p.Asp289Glu
ENST00000650307.1:n.1762C>A
ENST00000652429.1:c.936C>A MANE Select	ENSP00000498786.1:p.Asp312Glu
ENST00000278715.7:c.936C>A	ENSP00000278715.3:p.Asp312Glu
ENST00000392841.1:c.885C>A	ENSP00000376584.1:p.Asp295Glu
ENST00000442944.6:c.885C>A	ENSP00000392041.2:p.Asp295Glu
ENST00000537841.5:c.885C>A	ENSP00000444730.1:p.Asp295Glu
ENST00000539045.1:n.435C>A
ENST00000542044.5:n.1381C>A
ENST00000542729.5:c.765C>A	ENSP00000443058.1:p.Asp255Glu
ENST00000543090.5:c.843C>A	ENSP00000445429.1:p.Asp281Glu
ENST00000543543.5:n.1411C>A
ENST00000544182.1:n.1385C>A
ENST00000544387.5:c.816C>A	ENSP00000438424.1:p.Asp272Glu
ENST00000546226.5:n.1698C>A
NM_000190.3:c.936C>A	NP_000181.2:p.Asp312Glu
NM_001024382.1:c.885C>A	NP_001019553.1:p.Asp295Glu
NM_001258208.1:c.816C>A	NP_001245137.1:p.Asp272Glu
NM_001258209.1:c.765C>A	NP_001245138.1:p.Asp255Glu
XM_005271531.1:c.885C>A	XP_005271588.1:p.Asp295Glu
XM_005271532.1:c.885C>A	XP_005271589.1:p.Asp295Glu
XM_005271533.2:c.882C>A	XP_005271590.1:p.Asp294Glu
XM_011542796.1:c.771C>A	XP_011541098.1:p.Asp257Glu
NM_000190.4:c.936C>A MANE Select	NP_000181.2:p.Asp312Glu
NM_001024382.2:c.885C>A	NP_001019553.1:p.Asp295Glu
XM_005271533.3:c.882C>A	XP_005271590.1:p.Asp294Glu
XM_017017629.1:c.885C>A	XP_016873118.1:p.Asp295Glu
XM_024448460.1:c.762C>A	XP_024304228.1:p.Asp254Glu
NM_001258208.2:c.816C>A	NP_001245137.1:p.Asp272Glu
NM_001258209.2:c.765C>A	NP_001245138.1:p.Asp255Glu