Canonical Allele Identifier: CA382898976

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963724C>A (hg19) ; chr11:g.119093014C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093014C>A , CM000673.2:g.119093014C>A	GRCh38
NC_000011.9:g.118963724C>A , CM000673.1:g.118963724C>A	GRCh37
NC_000011.8:g.118468934C>A	NCBI36
NG_008093.1:g.13138C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.740C>A	ENSP00000509288.1:p.Pro247His
ENST00000691144.1:n.3120C>A
ENST00000691249.1:n.1729C>A
ENST00000442944.7:c.887C>A	ENSP00000392041.3:p.Pro296His
ENST00000640813.1:c.*142C>A	ENSP00000491061.1:n.*142C>A
ENST00000648026.1:c.799C>A	ENSP00000498044.1:n.799C>A
ENST00000648374.1:c.854C>A	ENSP00000497255.1:p.Pro285His
ENST00000650101.1:c.836C>A	ENSP00000496970.1:p.Pro279His
ENST00000650307.1:n.1731C>A
ENST00000652429.1:c.905C>A MANE Select	ENSP00000498786.1:p.Pro302His
ENST00000278715.7:c.905C>A	ENSP00000278715.3:p.Pro302His
ENST00000392841.1:c.854C>A	ENSP00000376584.1:p.Pro285His
ENST00000442944.6:c.854C>A	ENSP00000392041.2:p.Pro285His
ENST00000537841.5:c.854C>A	ENSP00000444730.1:p.Pro285His
ENST00000539045.1:n.404C>A
ENST00000542044.5:n.1350C>A
ENST00000542729.5:c.734C>A	ENSP00000443058.1:p.Pro245His
ENST00000543090.5:c.812C>A	ENSP00000445429.1:p.Pro271His
ENST00000543543.5:n.1380C>A
ENST00000544182.1:n.1354C>A
ENST00000544387.5:c.785C>A	ENSP00000438424.1:p.Pro262His
ENST00000546226.5:n.1667C>A
NM_000190.3:c.905C>A	NP_000181.2:p.Pro302His
NM_001024382.1:c.854C>A	NP_001019553.1:p.Pro285His
NM_001258208.1:c.785C>A	NP_001245137.1:p.Pro262His
NM_001258209.1:c.734C>A	NP_001245138.1:p.Pro245His
XM_005271531.1:c.854C>A	XP_005271588.1:p.Pro285His
XM_005271532.1:c.854C>A	XP_005271589.1:p.Pro285His
XM_005271533.2:c.851C>A	XP_005271590.1:p.Pro284His
XM_011542796.1:c.740C>A	XP_011541098.1:p.Pro247His
NM_000190.4:c.905C>A MANE Select	NP_000181.2:p.Pro302His
NM_001024382.2:c.854C>A	NP_001019553.1:p.Pro285His
XM_005271533.3:c.851C>A	XP_005271590.1:p.Pro284His
XM_017017629.1:c.854C>A	XP_016873118.1:p.Pro285His
XM_024448460.1:c.731C>A	XP_024304228.1:p.Pro244His
NM_001258208.2:c.785C>A	NP_001245137.1:p.Pro262His
NM_001258209.2:c.734C>A	NP_001245138.1:p.Pro245His