Canonical Allele Identifier: CA477126558

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118962840G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092130G>C , CM000673.2:g.119092130G>C	GRCh38
NC_000011.9:g.118962840G>C , CM000673.1:g.118962840G>C	GRCh37
NC_000011.8:g.118468050G>C	NCBI36
NG_008093.1:g.12254G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.453G>C	ENSP00000509288.1:p.Leu151=
ENST00000691144.1:n.2359G>C
ENST00000691249.1:n.1202G>C
ENST00000442944.7:c.600G>C	ENSP00000392041.3:p.Leu200=
ENST00000536813.6:c.567G>C	ENSP00000438726.2:p.Leu189=
ENST00000546302.6:c.540G>C	ENSP00000445599.1:p.Leu180=
ENST00000640813.1:c.461+256G>C	ENSP00000491061.1:n.461+256G>C
ENST00000648026.1:c.512G>C	ENSP00000498044.1:p.Cys171Ser
ENST00000648374.1:c.567G>C	ENSP00000497255.1:p.Leu189=
ENST00000648488.1:c.*91G>C	ENSP00000498079.1:n.*91G>C
ENST00000649823.1:n.835G>C
ENST00000650101.1:c.549G>C	ENSP00000496970.1:p.Leu183=
ENST00000650307.1:n.1444G>C
ENST00000652429.1:c.618G>C MANE Select	ENSP00000498786.1:p.Leu206=
ENST00000278715.7:c.618G>C	ENSP00000278715.3:p.Leu206=
ENST00000392841.1:c.567G>C	ENSP00000376584.1:p.Leu189=
ENST00000442944.6:c.567G>C	ENSP00000392041.2:p.Leu189=
ENST00000537841.5:c.567G>C	ENSP00000444730.1:p.Leu189=
ENST00000542044.5:n.1063G>C
ENST00000542345.5:n.756G>C
ENST00000542729.5:c.567G>C	ENSP00000443058.1:p.Leu189=
ENST00000543090.5:c.559-274G>C	ENSP00000445429.1:n.559-274G>C
ENST00000543543.5:n.853G>C
ENST00000544182.1:n.593G>C
ENST00000544387.5:c.618G>C	ENSP00000438424.1:p.Leu206=
ENST00000545621.5:c.*513G>C	ENSP00000444849.1:n.*513G>C
ENST00000546226.5:n.906G>C
ENST00000546302.5:c.540G>C	ENSP00000445599.1:p.Leu180=
NM_000190.3:c.618G>C	NP_000181.2:p.Leu206=
NM_001024382.1:c.567G>C	NP_001019553.1:p.Leu189=
NM_001258208.1:c.618G>C	NP_001245137.1:p.Leu206=
NM_001258209.1:c.567G>C	NP_001245138.1:p.Leu189=
XM_005271531.1:c.567G>C	XP_005271588.1:p.Leu189=
XM_005271532.1:c.567G>C	XP_005271589.1:p.Leu189=
XM_005271533.2:c.564G>C	XP_005271590.1:p.Leu188=
XM_011542796.1:c.453G>C	XP_011541098.1:p.Leu151=
NM_000190.4:c.618G>C MANE Select	NP_000181.2:p.Leu206=
NM_001024382.2:c.567G>C	NP_001019553.1:p.Leu189=
XM_005271533.3:c.564G>C	XP_005271590.1:p.Leu188=
XM_017017629.1:c.567G>C	XP_016873118.1:p.Leu189=
XM_024448460.1:c.564G>C	XP_024304228.1:p.Leu188=
NM_001258208.2:c.618G>C	NP_001245137.1:p.Leu206=
NM_001258209.2:c.567G>C	NP_001245138.1:p.Leu189=