Canonical Allele Identifier: CA382985789

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118955766C>G (hg19) ; chr11:g.119085056C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119085056C>G , CM000673.2:g.119085056C>G	GRCh38
NC_000011.9:g.118955766C>G , CM000673.1:g.118955766C>G	GRCh37
NC_000011.8:g.118460976C>G	NCBI36
NG_008093.1:g.5180C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442944.7:c.23C>G	ENSP00000392041.3:p.Ala8Gly
ENST00000534956.2:n.26C>G
ENST00000536813.6:c.-112C>G	ENSP00000438726.2:n.-112C>G
ENST00000546302.6:c.23C>G	ENSP00000445599.1:p.Ala8Gly
ENST00000640813.1:c.-29C>G	ENSP00000491061.1:n.-29C>G
ENST00000648026.1:c.17C>G	ENSP00000498044.1:p.Ala6Gly
ENST00000649868.1:c.23C>G	ENSP00000497548.1:p.Ala8Gly
ENST00000652429.1:c.23C>G MANE Select	ENSP00000498786.1:p.Ala8Gly
ENST00000278715.7:c.23C>G	ENSP00000278715.3:p.Ala8Gly
ENST00000442944.6:c.-112C>G	ENSP00000392041.2:n.-112C>G
ENST00000535793.5:c.23C>G	ENSP00000439904.1:p.Ala8Gly
ENST00000536185.5:n.191C>G
ENST00000536813.5:c.23C>G	ENSP00000438726.1:p.Ala8Gly
ENST00000537841.5:c.-120C>G	ENSP00000444730.1:n.-120C>G
ENST00000542044.5:n.148C>G
ENST00000542729.5:c.-120C>G	ENSP00000443058.1:n.-120C>G
ENST00000542822.5:c.23C>G	ENSP00000444817.1:p.Ala8Gly
ENST00000543090.5:c.23C>G	ENSP00000445429.1:p.Ala8Gly
ENST00000543821.5:n.169C>G
ENST00000544387.5:c.23C>G	ENSP00000438424.1:p.Ala8Gly
ENST00000545621.5:c.23C>G	ENSP00000444849.1:p.Ala8Gly
ENST00000545901.5:n.176C>G
ENST00000546302.5:c.23C>G	ENSP00000445599.1:p.Ala8Gly
NM_000190.3:c.23C>G	NP_000181.2:p.Ala8Gly
NM_001258208.1:c.23C>G	NP_001245137.1:p.Ala8Gly
NM_001258209.1:c.-120C>G	NP_001245138.1:n.-120C>G
XM_005271531.1:c.-120C>G	XP_005271588.1:n.-120C>G
XM_005271532.1:c.-96C>G	XP_005271589.1:n.-96C>G
XM_005271533.2:c.23C>G	XP_005271590.1:p.Ala8Gly
NM_000190.4:c.23C>G MANE Select	NP_000181.2:p.Ala8Gly
XM_005271533.3:c.23C>G	XP_005271590.1:p.Ala8Gly
XM_024448460.1:c.23C>G	XP_024304228.1:p.Ala8Gly
NM_001258208.2:c.23C>G	NP_001245137.1:p.Ala8Gly
NM_001258209.2:c.-120C>G	NP_001245138.1:n.-120C>G