Canonical Allele Identifier: CA477128484

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963185C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092475C>A , CM000673.2:g.119092475C>A	GRCh38
NC_000011.9:g.118963185C>A , CM000673.1:g.118963185C>A	GRCh37
NC_000011.8:g.118468395C>A	NCBI36
NG_008093.1:g.12599C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.558C>A	ENSP00000509288.1:p.Pro186=
ENST00000691144.1:n.2704C>A
ENST00000691249.1:n.1547C>A
ENST00000442944.7:c.705C>A	ENSP00000392041.3:p.Pro235=
ENST00000536813.6:c.672C>A	ENSP00000438726.2:p.Pro224=
ENST00000640813.1:c.533C>A	ENSP00000491061.1:p.Pro178Gln
ENST00000648026.1:c.617C>A	ENSP00000498044.1:p.Pro206Gln
ENST00000648374.1:c.672C>A	ENSP00000497255.1:p.Pro224=
ENST00000649823.1:n.1180C>A
ENST00000650101.1:c.654C>A	ENSP00000496970.1:p.Pro218=
ENST00000650307.1:n.1549C>A
ENST00000652429.1:c.723C>A MANE Select	ENSP00000498786.1:p.Pro241=
ENST00000278715.7:c.723C>A	ENSP00000278715.3:p.Pro241=
ENST00000392841.1:c.672C>A	ENSP00000376584.1:p.Pro224=
ENST00000442944.6:c.672C>A	ENSP00000392041.2:p.Pro224=
ENST00000537841.5:c.672C>A	ENSP00000444730.1:p.Pro224=
ENST00000542044.5:n.1168C>A
ENST00000542729.5:c.601-283C>A	ENSP00000443058.1:n.601-283C>A
ENST00000543090.5:c.630C>A	ENSP00000445429.1:p.Pro210=
ENST00000543543.5:n.1198C>A
ENST00000544182.1:n.938C>A
ENST00000544387.5:c.652-283C>A	ENSP00000438424.1:n.652-283C>A
ENST00000545621.5:c.*858C>A	ENSP00000444849.1:n.*858C>A
ENST00000546226.5:n.1251C>A
NM_000190.3:c.723C>A	NP_000181.2:p.Pro241=
NM_001024382.1:c.672C>A	NP_001019553.1:p.Pro224=
NM_001258208.1:c.652-283C>A	NP_001245137.1:n.652-283C>A
NM_001258209.1:c.601-283C>A	NP_001245138.1:n.601-283C>A
XM_005271531.1:c.672C>A	XP_005271588.1:p.Pro224=
XM_005271532.1:c.672C>A	XP_005271589.1:p.Pro224=
XM_005271533.2:c.669C>A	XP_005271590.1:p.Pro223=
XM_011542796.1:c.558C>A	XP_011541098.1:p.Pro186=
NM_000190.4:c.723C>A MANE Select	NP_000181.2:p.Pro241=
NM_001024382.2:c.672C>A	NP_001019553.1:p.Pro224=
XM_005271533.3:c.669C>A	XP_005271590.1:p.Pro223=
XM_017017629.1:c.672C>A	XP_016873118.1:p.Pro224=
XM_024448460.1:c.598-283C>A	XP_024304228.1:n.598-283C>A
NM_001258208.2:c.652-283C>A	NP_001245137.1:n.652-283C>A
NM_001258209.2:c.601-283C>A	NP_001245138.1:n.601-283C>A