Canonical Allele Identifier: CA382898998

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963729C>T (hg19) ; chr11:g.119093019C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093019C>T , CM000673.2:g.119093019C>T	GRCh38
NC_000011.9:g.118963729C>T , CM000673.1:g.118963729C>T	GRCh37
NC_000011.8:g.118468939C>T	NCBI36
NG_008093.1:g.13143C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.745C>T	ENSP00000509288.1:p.Gln249Ter
ENST00000691144.1:n.3125C>T
ENST00000691249.1:n.1734C>T
ENST00000442944.7:c.892C>T	ENSP00000392041.3:p.Gln298Ter
ENST00000640813.1:c.*147C>T	ENSP00000491061.1:n.*147C>T
ENST00000648026.1:c.804C>T	ENSP00000498044.1:n.804C>T
ENST00000648374.1:c.859C>T	ENSP00000497255.1:p.Gln287Ter
ENST00000650101.1:c.841C>T	ENSP00000496970.1:p.Gln281Ter
ENST00000650307.1:n.1736C>T
ENST00000652429.1:c.910C>T MANE Select	ENSP00000498786.1:p.Gln304Ter
ENST00000278715.7:c.910C>T	ENSP00000278715.3:p.Gln304Ter
ENST00000392841.1:c.859C>T	ENSP00000376584.1:p.Gln287Ter
ENST00000442944.6:c.859C>T	ENSP00000392041.2:p.Gln287Ter
ENST00000537841.5:c.859C>T	ENSP00000444730.1:p.Gln287Ter
ENST00000539045.1:n.409C>T
ENST00000542044.5:n.1355C>T
ENST00000542729.5:c.739C>T	ENSP00000443058.1:p.Gln247Ter
ENST00000543090.5:c.817C>T	ENSP00000445429.1:p.Gln273Ter
ENST00000543543.5:n.1385C>T
ENST00000544182.1:n.1359C>T
ENST00000544387.5:c.790C>T	ENSP00000438424.1:p.Gln264Ter
ENST00000546226.5:n.1672C>T
NM_000190.3:c.910C>T	NP_000181.2:p.Gln304Ter
NM_001024382.1:c.859C>T	NP_001019553.1:p.Gln287Ter
NM_001258208.1:c.790C>T	NP_001245137.1:p.Gln264Ter
NM_001258209.1:c.739C>T	NP_001245138.1:p.Gln247Ter
XM_005271531.1:c.859C>T	XP_005271588.1:p.Gln287Ter
XM_005271532.1:c.859C>T	XP_005271589.1:p.Gln287Ter
XM_005271533.2:c.856C>T	XP_005271590.1:p.Gln286Ter
XM_011542796.1:c.745C>T	XP_011541098.1:p.Gln249Ter
NM_000190.4:c.910C>T MANE Select	NP_000181.2:p.Gln304Ter
NM_001024382.2:c.859C>T	NP_001019553.1:p.Gln287Ter
XM_005271533.3:c.856C>T	XP_005271590.1:p.Gln286Ter
XM_017017629.1:c.859C>T	XP_016873118.1:p.Gln287Ter
XM_024448460.1:c.736C>T	XP_024304228.1:p.Gln246Ter
NM_001258208.2:c.790C>T	NP_001245137.1:p.Gln264Ter
NM_001258209.2:c.739C>T	NP_001245138.1:p.Gln247Ter