Canonical Allele Identifier: CA382900106

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963975G>C (hg19) ; chr11:g.119093265G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093265G>C , CM000673.2:g.119093265G>C	GRCh38
NC_000011.9:g.118963975G>C , CM000673.1:g.118963975G>C	GRCh37
NC_000011.8:g.118469185G>C	NCBI36
NG_008093.1:g.13389G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.903G>C	ENSP00000509288.1:p.Gln301His
ENST00000691144.1:n.3283G>C
ENST00000691249.1:n.1892G>C
ENST00000442944.7:c.1050G>C	ENSP00000392041.3:p.Gln350His
ENST00000640813.1:c.*305G>C	ENSP00000491061.1:n.*305G>C
ENST00000648026.1:c.962G>C	ENSP00000498044.1:n.962G>C
ENST00000648374.1:c.1017G>C	ENSP00000497255.1:p.Gln339His
ENST00000650101.1:c.999G>C	ENSP00000496970.1:p.Gln333His
ENST00000650307.1:n.1894G>C
ENST00000652429.1:c.1068G>C MANE Select	ENSP00000498786.1:p.Gln356His
ENST00000278715.7:c.1068G>C	ENSP00000278715.3:p.Gln356His
ENST00000392841.1:c.1017G>C	ENSP00000376584.1:p.Gln339His
ENST00000442944.6:c.1017G>C	ENSP00000392041.2:p.Gln339His
ENST00000537841.5:c.1017G>C	ENSP00000444730.1:p.Gln339His
ENST00000539045.1:n.567G>C
ENST00000542044.5:n.1513G>C
ENST00000542729.5:c.897G>C	ENSP00000443058.1:p.Gln299His
ENST00000543090.5:c.975G>C	ENSP00000445429.1:p.Gln325His
ENST00000543543.5:n.1543G>C
ENST00000544182.1:n.1517G>C
ENST00000544387.5:c.948G>C	ENSP00000438424.1:p.Gln316His
ENST00000546226.5:n.1830G>C
NM_000190.3:c.1068G>C	NP_000181.2:p.Gln356His
NM_001024382.1:c.1017G>C	NP_001019553.1:p.Gln339His
NM_001258208.1:c.948G>C	NP_001245137.1:p.Gln316His
NM_001258209.1:c.897G>C	NP_001245138.1:p.Gln299His
XM_005271531.1:c.1017G>C	XP_005271588.1:p.Gln339His
XM_005271532.1:c.1017G>C	XP_005271589.1:p.Gln339His
XM_005271533.2:c.1014G>C	XP_005271590.1:p.Gln338His
XM_011542796.1:c.903G>C	XP_011541098.1:p.Gln301His
NM_000190.4:c.1068G>C MANE Select	NP_000181.2:p.Gln356His
NM_001024382.2:c.1017G>C	NP_001019553.1:p.Gln339His
XM_005271533.3:c.1014G>C	XP_005271590.1:p.Gln338His
XM_017017629.1:c.1017G>C	XP_016873118.1:p.Gln339His
XM_024448460.1:c.894G>C	XP_024304228.1:p.Gln298His
NM_001258208.2:c.948G>C	NP_001245137.1:p.Gln316His
NM_001258209.2:c.897G>C	NP_001245138.1:p.Gln299His