Canonical Allele Identifier: CA382896817

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118962863C>A (hg19) ; chr11:g.119092153C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092153C>A , CM000673.2:g.119092153C>A	GRCh38
NC_000011.9:g.118962863C>A , CM000673.1:g.118962863C>A	GRCh37
NC_000011.8:g.118468073C>A	NCBI36
NG_008093.1:g.12277C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.476C>A	ENSP00000509288.1:p.Ala159Asp
ENST00000691144.1:n.2382C>A
ENST00000691249.1:n.1225C>A
ENST00000442944.7:c.623C>A	ENSP00000392041.3:p.Ala208Asp
ENST00000536813.6:c.590C>A	ENSP00000438726.2:p.Ala197Asp
ENST00000546302.6:c.563C>A	ENSP00000445599.1:p.Ala188Asp
ENST00000640813.1:c.462-251C>A	ENSP00000491061.1:n.462-251C>A
ENST00000648026.1:c.535C>A	ENSP00000498044.1:p.Leu179Met
ENST00000648374.1:c.590C>A	ENSP00000497255.1:p.Ala197Asp
ENST00000648488.1:c.*114C>A	ENSP00000498079.1:n.*114C>A
ENST00000649823.1:n.858C>A
ENST00000650101.1:c.572C>A	ENSP00000496970.1:p.Ala191Asp
ENST00000650307.1:n.1467C>A
ENST00000652429.1:c.641C>A MANE Select	ENSP00000498786.1:p.Ala214Asp
ENST00000278715.7:c.641C>A	ENSP00000278715.3:p.Ala214Asp
ENST00000392841.1:c.590C>A	ENSP00000376584.1:p.Ala197Asp
ENST00000442944.6:c.590C>A	ENSP00000392041.2:p.Ala197Asp
ENST00000537841.5:c.590C>A	ENSP00000444730.1:p.Ala197Asp
ENST00000542044.5:n.1086C>A
ENST00000542345.5:n.779C>A
ENST00000542729.5:c.590C>A	ENSP00000443058.1:p.Ala197Asp
ENST00000543090.5:c.559-251C>A	ENSP00000445429.1:n.559-251C>A
ENST00000543543.5:n.876C>A
ENST00000544182.1:n.616C>A
ENST00000544387.5:c.641C>A	ENSP00000438424.1:p.Ala214Asp
ENST00000545621.5:c.*536C>A	ENSP00000444849.1:n.*536C>A
ENST00000546226.5:n.929C>A
ENST00000546302.5:c.563C>A	ENSP00000445599.1:p.Ala188Asp
NM_000190.3:c.641C>A	NP_000181.2:p.Ala214Asp
NM_001024382.1:c.590C>A	NP_001019553.1:p.Ala197Asp
NM_001258208.1:c.641C>A	NP_001245137.1:p.Ala214Asp
NM_001258209.1:c.590C>A	NP_001245138.1:p.Ala197Asp
XM_005271531.1:c.590C>A	XP_005271588.1:p.Ala197Asp
XM_005271532.1:c.590C>A	XP_005271589.1:p.Ala197Asp
XM_005271533.2:c.587C>A	XP_005271590.1:p.Ala196Asp
XM_011542796.1:c.476C>A	XP_011541098.1:p.Ala159Asp
NM_000190.4:c.641C>A MANE Select	NP_000181.2:p.Ala214Asp
NM_001024382.2:c.590C>A	NP_001019553.1:p.Ala197Asp
XM_005271533.3:c.587C>A	XP_005271590.1:p.Ala196Asp
XM_017017629.1:c.590C>A	XP_016873118.1:p.Ala197Asp
XM_024448460.1:c.587C>A	XP_024304228.1:p.Ala196Asp
NM_001258208.2:c.641C>A	NP_001245137.1:p.Ala214Asp
NM_001258209.2:c.590C>A	NP_001245138.1:p.Ala197Asp