Canonical Allele Identifier: CA382899847

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963935T>A (hg19) ; chr11:g.119093225T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093225T>A , CM000673.2:g.119093225T>A	GRCh38
NC_000011.9:g.118963935T>A , CM000673.1:g.118963935T>A	GRCh37
NC_000011.8:g.118469145T>A	NCBI36
NG_008093.1:g.13349T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.863T>A	ENSP00000509288.1:p.Leu288Gln
ENST00000691144.1:n.3243T>A
ENST00000691249.1:n.1852T>A
ENST00000442944.7:c.1010T>A	ENSP00000392041.3:p.Leu337Gln
ENST00000640813.1:c.*265T>A	ENSP00000491061.1:n.*265T>A
ENST00000648026.1:c.922T>A	ENSP00000498044.1:n.922T>A
ENST00000648374.1:c.977T>A	ENSP00000497255.1:p.Leu326Gln
ENST00000650101.1:c.959T>A	ENSP00000496970.1:p.Leu320Gln
ENST00000650307.1:n.1854T>A
ENST00000652429.1:c.1028T>A MANE Select	ENSP00000498786.1:p.Leu343Gln
ENST00000278715.7:c.1028T>A	ENSP00000278715.3:p.Leu343Gln
ENST00000392841.1:c.977T>A	ENSP00000376584.1:p.Leu326Gln
ENST00000442944.6:c.977T>A	ENSP00000392041.2:p.Leu326Gln
ENST00000537841.5:c.977T>A	ENSP00000444730.1:p.Leu326Gln
ENST00000539045.1:n.527T>A
ENST00000542044.5:n.1473T>A
ENST00000542729.5:c.857T>A	ENSP00000443058.1:p.Leu286Gln
ENST00000543090.5:c.935T>A	ENSP00000445429.1:p.Leu312Gln
ENST00000543543.5:n.1503T>A
ENST00000544182.1:n.1477T>A
ENST00000544387.5:c.908T>A	ENSP00000438424.1:p.Leu303Gln
ENST00000546226.5:n.1790T>A
NM_000190.3:c.1028T>A	NP_000181.2:p.Leu343Gln
NM_001024382.1:c.977T>A	NP_001019553.1:p.Leu326Gln
NM_001258208.1:c.908T>A	NP_001245137.1:p.Leu303Gln
NM_001258209.1:c.857T>A	NP_001245138.1:p.Leu286Gln
XM_005271531.1:c.977T>A	XP_005271588.1:p.Leu326Gln
XM_005271532.1:c.977T>A	XP_005271589.1:p.Leu326Gln
XM_005271533.2:c.974T>A	XP_005271590.1:p.Leu325Gln
XM_011542796.1:c.863T>A	XP_011541098.1:p.Leu288Gln
NM_000190.4:c.1028T>A MANE Select	NP_000181.2:p.Leu343Gln
NM_001024382.2:c.977T>A	NP_001019553.1:p.Leu326Gln
XM_005271533.3:c.974T>A	XP_005271590.1:p.Leu325Gln
XM_017017629.1:c.977T>A	XP_016873118.1:p.Leu326Gln
XM_024448460.1:c.854T>A	XP_024304228.1:p.Leu285Gln
NM_001258208.2:c.908T>A	NP_001245137.1:p.Leu303Gln
NM_001258209.2:c.857T>A	NP_001245138.1:p.Leu286Gln