Canonical Allele Identifier: CA477369265

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963960G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093250G>T , CM000673.2:g.119093250G>T	GRCh38
NC_000011.9:g.118963960G>T , CM000673.1:g.118963960G>T	GRCh37
NC_000011.8:g.118469170G>T	NCBI36
NG_008093.1:g.13374G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.888G>T	ENSP00000509288.1:p.Leu296=
ENST00000691144.1:n.3268G>T
ENST00000691249.1:n.1877G>T
ENST00000442944.7:c.1035G>T	ENSP00000392041.3:p.Leu345=
ENST00000640813.1:c.*290G>T	ENSP00000491061.1:n.*290G>T
ENST00000648026.1:c.947G>T	ENSP00000498044.1:n.947G>T
ENST00000648374.1:c.1002G>T	ENSP00000497255.1:p.Leu334=
ENST00000650101.1:c.984G>T	ENSP00000496970.1:p.Leu328=
ENST00000650307.1:n.1879G>T
ENST00000652429.1:c.1053G>T MANE Select	ENSP00000498786.1:p.Leu351=
ENST00000278715.7:c.1053G>T	ENSP00000278715.3:p.Leu351=
ENST00000392841.1:c.1002G>T	ENSP00000376584.1:p.Leu334=
ENST00000442944.6:c.1002G>T	ENSP00000392041.2:p.Leu334=
ENST00000537841.5:c.1002G>T	ENSP00000444730.1:p.Leu334=
ENST00000539045.1:n.552G>T
ENST00000542044.5:n.1498G>T
ENST00000542729.5:c.882G>T	ENSP00000443058.1:p.Leu294=
ENST00000543090.5:c.960G>T	ENSP00000445429.1:p.Leu320=
ENST00000543543.5:n.1528G>T
ENST00000544182.1:n.1502G>T
ENST00000544387.5:c.933G>T	ENSP00000438424.1:p.Leu311=
ENST00000546226.5:n.1815G>T
NM_000190.3:c.1053G>T	NP_000181.2:p.Leu351=
NM_001024382.1:c.1002G>T	NP_001019553.1:p.Leu334=
NM_001258208.1:c.933G>T	NP_001245137.1:p.Leu311=
NM_001258209.1:c.882G>T	NP_001245138.1:p.Leu294=
XM_005271531.1:c.1002G>T	XP_005271588.1:p.Leu334=
XM_005271532.1:c.1002G>T	XP_005271589.1:p.Leu334=
XM_005271533.2:c.999G>T	XP_005271590.1:p.Leu333=
XM_011542796.1:c.888G>T	XP_011541098.1:p.Leu296=
NM_000190.4:c.1053G>T MANE Select	NP_000181.2:p.Leu351=
NM_001024382.2:c.1002G>T	NP_001019553.1:p.Leu334=
XM_005271533.3:c.999G>T	XP_005271590.1:p.Leu333=
XM_017017629.1:c.1002G>T	XP_016873118.1:p.Leu334=
XM_024448460.1:c.879G>T	XP_024304228.1:p.Leu293=
NM_001258208.2:c.933G>T	NP_001245137.1:p.Leu311=
NM_001258209.2:c.882G>T	NP_001245138.1:p.Leu294=