Canonical Allele Identifier: CA477369285

Gene: HMBS

Linked Data

• COSMIC: COSM5767226
• MyVariant Identifiers: chr11:g.118963861C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093151C>T , CM000673.2:g.119093151C>T	GRCh38
NC_000011.9:g.118963861C>T , CM000673.1:g.118963861C>T	GRCh37
NC_000011.8:g.118469071C>T	NCBI36
NG_008093.1:g.13275C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.789C>T	ENSP00000509288.1:p.Ile263=
ENST00000691144.1:n.3169C>T
ENST00000691249.1:n.1778C>T
ENST00000442944.7:c.936C>T	ENSP00000392041.3:p.Ile312=
ENST00000640813.1:c.*191C>T	ENSP00000491061.1:n.*191C>T
ENST00000648026.1:c.848C>T	ENSP00000498044.1:n.848C>T
ENST00000648374.1:c.903C>T	ENSP00000497255.1:p.Ile301=
ENST00000650101.1:c.885C>T	ENSP00000496970.1:p.Ile295=
ENST00000650307.1:n.1780C>T
ENST00000652429.1:c.954C>T MANE Select	ENSP00000498786.1:p.Ile318=
ENST00000278715.7:c.954C>T	ENSP00000278715.3:p.Ile318=
ENST00000392841.1:c.903C>T	ENSP00000376584.1:p.Ile301=
ENST00000442944.6:c.903C>T	ENSP00000392041.2:p.Ile301=
ENST00000537841.5:c.903C>T	ENSP00000444730.1:p.Ile301=
ENST00000539045.1:n.453C>T
ENST00000542044.5:n.1399C>T
ENST00000542729.5:c.783C>T	ENSP00000443058.1:p.Ile261=
ENST00000543090.5:c.861C>T	ENSP00000445429.1:p.Ile287=
ENST00000543543.5:n.1429C>T
ENST00000544182.1:n.1403C>T
ENST00000544387.5:c.834C>T	ENSP00000438424.1:p.Ile278=
ENST00000546226.5:n.1716C>T
NM_000190.3:c.954C>T	NP_000181.2:p.Ile318=
NM_001024382.1:c.903C>T	NP_001019553.1:p.Ile301=
NM_001258208.1:c.834C>T	NP_001245137.1:p.Ile278=
NM_001258209.1:c.783C>T	NP_001245138.1:p.Ile261=
XM_005271531.1:c.903C>T	XP_005271588.1:p.Ile301=
XM_005271532.1:c.903C>T	XP_005271589.1:p.Ile301=
XM_005271533.2:c.900C>T	XP_005271590.1:p.Ile300=
XM_011542796.1:c.789C>T	XP_011541098.1:p.Ile263=
NM_000190.4:c.954C>T MANE Select	NP_000181.2:p.Ile318=
NM_001024382.2:c.903C>T	NP_001019553.1:p.Ile301=
XM_005271533.3:c.900C>T	XP_005271590.1:p.Ile300=
XM_017017629.1:c.903C>T	XP_016873118.1:p.Ile301=
XM_024448460.1:c.780C>T	XP_024304228.1:p.Ile260=
NM_001258208.2:c.834C>T	NP_001245137.1:p.Ile278=
NM_001258209.2:c.783C>T	NP_001245138.1:p.Ile261=