Canonical Allele Identifier: CA382899475

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963886C>G (hg19) ; chr11:g.119093176C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093176C>G , CM000673.2:g.119093176C>G	GRCh38
NC_000011.9:g.118963886C>G , CM000673.1:g.118963886C>G	GRCh37
NC_000011.8:g.118469096C>G	NCBI36
NG_008093.1:g.13300C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.814C>G	ENSP00000509288.1:p.Pro272Ala
ENST00000691144.1:n.3194C>G
ENST00000691249.1:n.1803C>G
ENST00000442944.7:c.961C>G	ENSP00000392041.3:p.Pro321Ala
ENST00000640813.1:c.*216C>G	ENSP00000491061.1:n.*216C>G
ENST00000648026.1:c.873C>G	ENSP00000498044.1:n.873C>G
ENST00000648374.1:c.928C>G	ENSP00000497255.1:p.Pro310Ala
ENST00000650101.1:c.910C>G	ENSP00000496970.1:p.Pro304Ala
ENST00000650307.1:n.1805C>G
ENST00000652429.1:c.979C>G MANE Select	ENSP00000498786.1:p.Pro327Ala
ENST00000278715.7:c.979C>G	ENSP00000278715.3:p.Pro327Ala
ENST00000392841.1:c.928C>G	ENSP00000376584.1:p.Pro310Ala
ENST00000442944.6:c.928C>G	ENSP00000392041.2:p.Pro310Ala
ENST00000537841.5:c.928C>G	ENSP00000444730.1:p.Pro310Ala
ENST00000539045.1:n.478C>G
ENST00000542044.5:n.1424C>G
ENST00000542729.5:c.808C>G	ENSP00000443058.1:p.Pro270Ala
ENST00000543090.5:c.886C>G	ENSP00000445429.1:p.Pro296Ala
ENST00000543543.5:n.1454C>G
ENST00000544182.1:n.1428C>G
ENST00000544387.5:c.859C>G	ENSP00000438424.1:p.Pro287Ala
ENST00000546226.5:n.1741C>G
NM_000190.3:c.979C>G	NP_000181.2:p.Pro327Ala
NM_001024382.1:c.928C>G	NP_001019553.1:p.Pro310Ala
NM_001258208.1:c.859C>G	NP_001245137.1:p.Pro287Ala
NM_001258209.1:c.808C>G	NP_001245138.1:p.Pro270Ala
XM_005271531.1:c.928C>G	XP_005271588.1:p.Pro310Ala
XM_005271532.1:c.928C>G	XP_005271589.1:p.Pro310Ala
XM_005271533.2:c.925C>G	XP_005271590.1:p.Pro309Ala
XM_011542796.1:c.814C>G	XP_011541098.1:p.Pro272Ala
NM_000190.4:c.979C>G MANE Select	NP_000181.2:p.Pro327Ala
NM_001024382.2:c.928C>G	NP_001019553.1:p.Pro310Ala
XM_005271533.3:c.925C>G	XP_005271590.1:p.Pro309Ala
XM_017017629.1:c.928C>G	XP_016873118.1:p.Pro310Ala
XM_024448460.1:c.805C>G	XP_024304228.1:p.Pro269Ala
NM_001258208.2:c.859C>G	NP_001245137.1:p.Pro287Ala
NM_001258209.2:c.808C>G	NP_001245138.1:p.Pro270Ala