Canonical Allele Identifier: CA382899327

Gene: HMBS

Linked Data

• ClinVar Variation Id: 1373269
• ClinVar RCV Id: RCV001875106
• dbSNP Id: rs2134885598
• MyVariant Identifiers: chr11:g.118963866C>T (hg19) ; chr11:g.119093156C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093156C>T , CM000673.2:g.119093156C>T	GRCh38
NC_000011.9:g.118963866C>T , CM000673.1:g.118963866C>T	GRCh37
NC_000011.8:g.118469076C>T	NCBI36
NG_008093.1:g.13280C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.794C>T	ENSP00000509288.1:p.Ala265Val
ENST00000691144.1:n.3174C>T
ENST00000691249.1:n.1783C>T
ENST00000442944.7:c.941C>T	ENSP00000392041.3:p.Ala314Val
ENST00000640813.1:c.*196C>T	ENSP00000491061.1:n.*196C>T
ENST00000648026.1:c.853C>T	ENSP00000498044.1:n.853C>T
ENST00000648374.1:c.908C>T	ENSP00000497255.1:p.Ala303Val
ENST00000650101.1:c.890C>T	ENSP00000496970.1:p.Ala297Val
ENST00000650307.1:n.1785C>T
ENST00000652429.1:c.959C>T MANE Select	ENSP00000498786.1:p.Ala320Val
ENST00000278715.7:c.959C>T	ENSP00000278715.3:p.Ala320Val
ENST00000392841.1:c.908C>T	ENSP00000376584.1:p.Ala303Val
ENST00000442944.6:c.908C>T	ENSP00000392041.2:p.Ala303Val
ENST00000537841.5:c.908C>T	ENSP00000444730.1:p.Ala303Val
ENST00000539045.1:n.458C>T
ENST00000542044.5:n.1404C>T
ENST00000542729.5:c.788C>T	ENSP00000443058.1:p.Ala263Val
ENST00000543090.5:c.866C>T	ENSP00000445429.1:p.Ala289Val
ENST00000543543.5:n.1434C>T
ENST00000544182.1:n.1408C>T
ENST00000544387.5:c.839C>T	ENSP00000438424.1:p.Ala280Val
ENST00000546226.5:n.1721C>T
NM_000190.3:c.959C>T	NP_000181.2:p.Ala320Val
NM_001024382.1:c.908C>T	NP_001019553.1:p.Ala303Val
NM_001258208.1:c.839C>T	NP_001245137.1:p.Ala280Val
NM_001258209.1:c.788C>T	NP_001245138.1:p.Ala263Val
XM_005271531.1:c.908C>T	XP_005271588.1:p.Ala303Val
XM_005271532.1:c.908C>T	XP_005271589.1:p.Ala303Val
XM_005271533.2:c.905C>T	XP_005271590.1:p.Ala302Val
XM_011542796.1:c.794C>T	XP_011541098.1:p.Ala265Val
NM_000190.4:c.959C>T MANE Select	NP_000181.2:p.Ala320Val
NM_001024382.2:c.908C>T	NP_001019553.1:p.Ala303Val
XM_005271533.3:c.905C>T	XP_005271590.1:p.Ala302Val
XM_017017629.1:c.908C>T	XP_016873118.1:p.Ala303Val
XM_024448460.1:c.785C>T	XP_024304228.1:p.Ala262Val
NM_001258208.2:c.839C>T	NP_001245137.1:p.Ala280Val
NM_001258209.2:c.788C>T	NP_001245138.1:p.Ala263Val