Canonical Allele Identifier: CA382896816

Gene: HMBS

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.476C>T	ENSP00000509288.1:p.Ala159Val
ENST00000691144.1:n.2382C>T
ENST00000691249.1:n.1225C>T
ENST00000442944.7:c.623C>T	ENSP00000392041.3:p.Ala208Val
ENST00000536813.6:c.590C>T	ENSP00000438726.2:p.Ala197Val
ENST00000546302.6:c.563C>T	ENSP00000445599.1:p.Ala188Val
ENST00000640813.1:c.462-251C>T	ENSP00000491061.1:n.462-251C>T
ENST00000648026.1:c.535C>T	ENSP00000498044.1:p.Leu179=
ENST00000648374.1:c.590C>T	ENSP00000497255.1:p.Ala197Val
ENST00000648488.1:c.*114C>T	ENSP00000498079.1:n.*114C>T
ENST00000649823.1:n.858C>T
ENST00000650101.1:c.572C>T	ENSP00000496970.1:p.Ala191Val
ENST00000650307.1:n.1467C>T
ENST00000652429.1:c.641C>T MANE Select	ENSP00000498786.1:p.Ala214Val
ENST00000278715.7:c.641C>T	ENSP00000278715.3:p.Ala214Val
ENST00000392841.1:c.590C>T	ENSP00000376584.1:p.Ala197Val
ENST00000442944.6:c.590C>T	ENSP00000392041.2:p.Ala197Val
ENST00000537841.5:c.590C>T	ENSP00000444730.1:p.Ala197Val
ENST00000542044.5:n.1086C>T
ENST00000542345.5:n.779C>T
ENST00000542729.5:c.590C>T	ENSP00000443058.1:p.Ala197Val
ENST00000543090.5:c.559-251C>T	ENSP00000445429.1:n.559-251C>T
ENST00000543543.5:n.876C>T
ENST00000544182.1:n.616C>T
ENST00000544387.5:c.641C>T	ENSP00000438424.1:p.Ala214Val
ENST00000545621.5:c.*536C>T	ENSP00000444849.1:n.*536C>T
ENST00000546226.5:n.929C>T
ENST00000546302.5:c.563C>T	ENSP00000445599.1:p.Ala188Val
NM_000190.3:c.641C>T	NP_000181.2:p.Ala214Val
NM_001024382.1:c.590C>T	NP_001019553.1:p.Ala197Val
NM_001258208.1:c.641C>T	NP_001245137.1:p.Ala214Val
NM_001258209.1:c.590C>T	NP_001245138.1:p.Ala197Val
XM_005271531.1:c.590C>T	XP_005271588.1:p.Ala197Val
XM_005271532.1:c.590C>T	XP_005271589.1:p.Ala197Val
XM_005271533.2:c.587C>T	XP_005271590.1:p.Ala196Val
XM_011542796.1:c.476C>T	XP_011541098.1:p.Ala159Val
NM_000190.4:c.641C>T MANE Select	NP_000181.2:p.Ala214Val
NM_001024382.2:c.590C>T	NP_001019553.1:p.Ala197Val
XM_005271533.3:c.587C>T	XP_005271590.1:p.Ala196Val
XM_017017629.1:c.590C>T	XP_016873118.1:p.Ala197Val
XM_024448460.1:c.587C>T	XP_024304228.1:p.Ala196Val
NM_001258208.2:c.641C>T	NP_001245137.1:p.Ala214Val
NM_001258209.2:c.590C>T	NP_001245138.1:p.Ala197Val