Canonical Allele Identifier: CA382899493

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963889C>T (hg19) ; chr11:g.119093179C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093179C>T , CM000673.2:g.119093179C>T	GRCh38
NC_000011.9:g.118963889C>T , CM000673.1:g.118963889C>T	GRCh37
NC_000011.8:g.118469099C>T	NCBI36
NG_008093.1:g.13303C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.817C>T	ENSP00000509288.1:p.Gln273Ter
ENST00000691144.1:n.3197C>T
ENST00000691249.1:n.1806C>T
ENST00000442944.7:c.964C>T	ENSP00000392041.3:p.Gln322Ter
ENST00000640813.1:c.*219C>T	ENSP00000491061.1:n.*219C>T
ENST00000648026.1:c.876C>T	ENSP00000498044.1:n.876C>T
ENST00000648374.1:c.931C>T	ENSP00000497255.1:p.Gln311Ter
ENST00000650101.1:c.913C>T	ENSP00000496970.1:p.Gln305Ter
ENST00000650307.1:n.1808C>T
ENST00000652429.1:c.982C>T MANE Select	ENSP00000498786.1:p.Gln328Ter
ENST00000278715.7:c.982C>T	ENSP00000278715.3:p.Gln328Ter
ENST00000392841.1:c.931C>T	ENSP00000376584.1:p.Gln311Ter
ENST00000442944.6:c.931C>T	ENSP00000392041.2:p.Gln311Ter
ENST00000537841.5:c.931C>T	ENSP00000444730.1:p.Gln311Ter
ENST00000539045.1:n.481C>T
ENST00000542044.5:n.1427C>T
ENST00000542729.5:c.811C>T	ENSP00000443058.1:p.Gln271Ter
ENST00000543090.5:c.889C>T	ENSP00000445429.1:p.Gln297Ter
ENST00000543543.5:n.1457C>T
ENST00000544182.1:n.1431C>T
ENST00000544387.5:c.862C>T	ENSP00000438424.1:p.Gln288Ter
ENST00000546226.5:n.1744C>T
NM_000190.3:c.982C>T	NP_000181.2:p.Gln328Ter
NM_001024382.1:c.931C>T	NP_001019553.1:p.Gln311Ter
NM_001258208.1:c.862C>T	NP_001245137.1:p.Gln288Ter
NM_001258209.1:c.811C>T	NP_001245138.1:p.Gln271Ter
XM_005271531.1:c.931C>T	XP_005271588.1:p.Gln311Ter
XM_005271532.1:c.931C>T	XP_005271589.1:p.Gln311Ter
XM_005271533.2:c.928C>T	XP_005271590.1:p.Gln310Ter
XM_011542796.1:c.817C>T	XP_011541098.1:p.Gln273Ter
NM_000190.4:c.982C>T MANE Select	NP_000181.2:p.Gln328Ter
NM_001024382.2:c.931C>T	NP_001019553.1:p.Gln311Ter
XM_005271533.3:c.928C>T	XP_005271590.1:p.Gln310Ter
XM_017017629.1:c.931C>T	XP_016873118.1:p.Gln311Ter
XM_024448460.1:c.808C>T	XP_024304228.1:p.Gln270Ter
NM_001258208.2:c.862C>T	NP_001245137.1:p.Gln288Ter
NM_001258209.2:c.811C>T	NP_001245138.1:p.Gln271Ter