Canonical Allele Identifier: CA6314298

Gene: HMBS

Linked Data

• ClinVar Variation Id: 851744
• ClinVar RCV Id: RCV001056204 ; RCV001535464
• dbSNP Id: rs770086296
• ExAC: 11:118963899 C / T
• gnomAD v2: 11-118963899-C-T
• gnomAD v3: 11-119093189-C-T
• gnomAD v4: 11-119093189-C-T
• MyVariant Identifiers: chr11:g.118963899C>T (hg19) ; chr11:g.119093189C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093189C>T , CM000673.2:g.119093189C>T	GRCh38
NC_000011.9:g.118963899C>T , CM000673.1:g.118963899C>T	GRCh37
NC_000011.8:g.118469109C>T	NCBI36
NG_008093.1:g.13313C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.827C>T	ENSP00000509288.1:p.Ala276Val
ENST00000691144.1:n.3207C>T
ENST00000691249.1:n.1816C>T
ENST00000442944.7:c.974C>T	ENSP00000392041.3:p.Ala325Val
ENST00000640813.1:c.*229C>T	ENSP00000491061.1:n.*229C>T
ENST00000648026.1:c.886C>T	ENSP00000498044.1:n.886C>T
ENST00000648374.1:c.941C>T	ENSP00000497255.1:p.Ala314Val
ENST00000650101.1:c.923C>T	ENSP00000496970.1:p.Ala308Val
ENST00000650307.1:n.1818C>T
ENST00000652429.1:c.992C>T MANE Select	ENSP00000498786.1:p.Ala331Val
ENST00000278715.7:c.992C>T	ENSP00000278715.3:p.Ala331Val
ENST00000392841.1:c.941C>T	ENSP00000376584.1:p.Ala314Val
ENST00000442944.6:c.941C>T	ENSP00000392041.2:p.Ala314Val
ENST00000537841.5:c.941C>T	ENSP00000444730.1:p.Ala314Val
ENST00000539045.1:n.491C>T
ENST00000542044.5:n.1437C>T
ENST00000542729.5:c.821C>T	ENSP00000443058.1:p.Ala274Val
ENST00000543090.5:c.899C>T	ENSP00000445429.1:p.Ala300Val
ENST00000543543.5:n.1467C>T
ENST00000544182.1:n.1441C>T
ENST00000544387.5:c.872C>T	ENSP00000438424.1:p.Ala291Val
ENST00000546226.5:n.1754C>T
NM_000190.3:c.992C>T	NP_000181.2:p.Ala331Val
NM_001024382.1:c.941C>T	NP_001019553.1:p.Ala314Val
NM_001258208.1:c.872C>T	NP_001245137.1:p.Ala291Val
NM_001258209.1:c.821C>T	NP_001245138.1:p.Ala274Val
XM_005271531.1:c.941C>T	XP_005271588.1:p.Ala314Val
XM_005271532.1:c.941C>T	XP_005271589.1:p.Ala314Val
XM_005271533.2:c.938C>T	XP_005271590.1:p.Ala313Val
XM_011542796.1:c.827C>T	XP_011541098.1:p.Ala276Val
NM_000190.4:c.992C>T MANE Select	NP_000181.2:p.Ala331Val
NM_001024382.2:c.941C>T	NP_001019553.1:p.Ala314Val
XM_005271533.3:c.938C>T	XP_005271590.1:p.Ala313Val
XM_017017629.1:c.941C>T	XP_016873118.1:p.Ala314Val
XM_024448460.1:c.818C>T	XP_024304228.1:p.Ala273Val
NM_001258208.2:c.872C>T	NP_001245137.1:p.Ala291Val
NM_001258209.2:c.821C>T	NP_001245138.1:p.Ala274Val