Canonical Allele Identifier: CA477369322

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963888C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093178C>A , CM000673.2:g.119093178C>A	GRCh38
NC_000011.9:g.118963888C>A , CM000673.1:g.118963888C>A	GRCh37
NC_000011.8:g.118469098C>A	NCBI36
NG_008093.1:g.13302C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.816C>A	ENSP00000509288.1:p.Pro272=
ENST00000691144.1:n.3196C>A
ENST00000691249.1:n.1805C>A
ENST00000442944.7:c.963C>A	ENSP00000392041.3:p.Pro321=
ENST00000640813.1:c.*218C>A	ENSP00000491061.1:n.*218C>A
ENST00000648026.1:c.875C>A	ENSP00000498044.1:n.875C>A
ENST00000648374.1:c.930C>A	ENSP00000497255.1:p.Pro310=
ENST00000650101.1:c.912C>A	ENSP00000496970.1:p.Pro304=
ENST00000650307.1:n.1807C>A
ENST00000652429.1:c.981C>A MANE Select	ENSP00000498786.1:p.Pro327=
ENST00000278715.7:c.981C>A	ENSP00000278715.3:p.Pro327=
ENST00000392841.1:c.930C>A	ENSP00000376584.1:p.Pro310=
ENST00000442944.6:c.930C>A	ENSP00000392041.2:p.Pro310=
ENST00000537841.5:c.930C>A	ENSP00000444730.1:p.Pro310=
ENST00000539045.1:n.480C>A
ENST00000542044.5:n.1426C>A
ENST00000542729.5:c.810C>A	ENSP00000443058.1:p.Pro270=
ENST00000543090.5:c.888C>A	ENSP00000445429.1:p.Pro296=
ENST00000543543.5:n.1456C>A
ENST00000544182.1:n.1430C>A
ENST00000544387.5:c.861C>A	ENSP00000438424.1:p.Pro287=
ENST00000546226.5:n.1743C>A
NM_000190.3:c.981C>A	NP_000181.2:p.Pro327=
NM_001024382.1:c.930C>A	NP_001019553.1:p.Pro310=
NM_001258208.1:c.861C>A	NP_001245137.1:p.Pro287=
NM_001258209.1:c.810C>A	NP_001245138.1:p.Pro270=
XM_005271531.1:c.930C>A	XP_005271588.1:p.Pro310=
XM_005271532.1:c.930C>A	XP_005271589.1:p.Pro310=
XM_005271533.2:c.927C>A	XP_005271590.1:p.Pro309=
XM_011542796.1:c.816C>A	XP_011541098.1:p.Pro272=
NM_000190.4:c.981C>A MANE Select	NP_000181.2:p.Pro327=
NM_001024382.2:c.930C>A	NP_001019553.1:p.Pro310=
XM_005271533.3:c.927C>A	XP_005271590.1:p.Pro309=
XM_017017629.1:c.930C>A	XP_016873118.1:p.Pro310=
XM_024448460.1:c.807C>A	XP_024304228.1:p.Pro269=
NM_001258208.2:c.861C>A	NP_001245137.1:p.Pro287=
NM_001258209.2:c.810C>A	NP_001245138.1:p.Pro270=