Canonical Allele Identifier: CA477369217

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963707G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092997G>A , CM000673.2:g.119092997G>A	GRCh38
NC_000011.9:g.118963707G>A , CM000673.1:g.118963707G>A	GRCh37
NC_000011.8:g.118468917G>A	NCBI36
NG_008093.1:g.13121G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.723G>A	ENSP00000509288.1:p.Gln241=
ENST00000691144.1:n.3103G>A
ENST00000691249.1:n.1712G>A
ENST00000442944.7:c.870G>A	ENSP00000392041.3:p.Gln290=
ENST00000640813.1:c.*125G>A	ENSP00000491061.1:n.*125G>A
ENST00000648026.1:c.782G>A	ENSP00000498044.1:n.782G>A
ENST00000648374.1:c.837G>A	ENSP00000497255.1:p.Gln279=
ENST00000650101.1:c.819G>A	ENSP00000496970.1:p.Gln273=
ENST00000650307.1:n.1714G>A
ENST00000652429.1:c.888G>A MANE Select	ENSP00000498786.1:p.Gln296=
ENST00000278715.7:c.888G>A	ENSP00000278715.3:p.Gln296=
ENST00000392841.1:c.837G>A	ENSP00000376584.1:p.Gln279=
ENST00000442944.6:c.837G>A	ENSP00000392041.2:p.Gln279=
ENST00000537841.5:c.837G>A	ENSP00000444730.1:p.Gln279=
ENST00000539045.1:n.387G>A
ENST00000542044.5:n.1333G>A
ENST00000542729.5:c.717G>A	ENSP00000443058.1:p.Gln239=
ENST00000543090.5:c.795G>A	ENSP00000445429.1:p.Gln265=
ENST00000543543.5:n.1363G>A
ENST00000544182.1:n.1337G>A
ENST00000544387.5:c.768G>A	ENSP00000438424.1:p.Gln256=
ENST00000546226.5:n.1650G>A
NM_000190.3:c.888G>A	NP_000181.2:p.Gln296=
NM_001024382.1:c.837G>A	NP_001019553.1:p.Gln279=
NM_001258208.1:c.768G>A	NP_001245137.1:p.Gln256=
NM_001258209.1:c.717G>A	NP_001245138.1:p.Gln239=
XM_005271531.1:c.837G>A	XP_005271588.1:p.Gln279=
XM_005271532.1:c.837G>A	XP_005271589.1:p.Gln279=
XM_005271533.2:c.834G>A	XP_005271590.1:p.Gln278=
XM_011542796.1:c.723G>A	XP_011541098.1:p.Gln241=
NM_000190.4:c.888G>A MANE Select	NP_000181.2:p.Gln296=
NM_001024382.2:c.837G>A	NP_001019553.1:p.Gln279=
XM_005271533.3:c.834G>A	XP_005271590.1:p.Gln278=
XM_017017629.1:c.837G>A	XP_016873118.1:p.Gln279=
XM_024448460.1:c.714G>A	XP_024304228.1:p.Gln238=
NM_001258208.2:c.768G>A	NP_001245137.1:p.Gln256=
NM_001258209.2:c.717G>A	NP_001245138.1:p.Gln239=