Canonical Allele Identifier: CA382899924

Gene: HMBS

Linked Data

• ClinVar Variation Id: 2114961
• ClinVar RCV Id: RCV003032424
• MyVariant Identifiers: chr11:g.118963947C>A (hg19) ; chr11:g.119093237C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093237C>A , CM000673.2:g.119093237C>A	GRCh38
NC_000011.9:g.118963947C>A , CM000673.1:g.118963947C>A	GRCh37
NC_000011.8:g.118469157C>A	NCBI36
NG_008093.1:g.13361C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.875C>A	ENSP00000509288.1:p.Ala292Asp
ENST00000691144.1:n.3255C>A
ENST00000691249.1:n.1864C>A
ENST00000442944.7:c.1022C>A	ENSP00000392041.3:p.Ala341Asp
ENST00000640813.1:c.*277C>A	ENSP00000491061.1:n.*277C>A
ENST00000648026.1:c.934C>A	ENSP00000498044.1:n.934C>A
ENST00000648374.1:c.989C>A	ENSP00000497255.1:p.Ala330Asp
ENST00000650101.1:c.971C>A	ENSP00000496970.1:p.Ala324Asp
ENST00000650307.1:n.1866C>A
ENST00000652429.1:c.1040C>A MANE Select	ENSP00000498786.1:p.Ala347Asp
ENST00000278715.7:c.1040C>A	ENSP00000278715.3:p.Ala347Asp
ENST00000392841.1:c.989C>A	ENSP00000376584.1:p.Ala330Asp
ENST00000442944.6:c.989C>A	ENSP00000392041.2:p.Ala330Asp
ENST00000537841.5:c.989C>A	ENSP00000444730.1:p.Ala330Asp
ENST00000539045.1:n.539C>A
ENST00000542044.5:n.1485C>A
ENST00000542729.5:c.869C>A	ENSP00000443058.1:p.Ala290Asp
ENST00000543090.5:c.947C>A	ENSP00000445429.1:p.Ala316Asp
ENST00000543543.5:n.1515C>A
ENST00000544182.1:n.1489C>A
ENST00000544387.5:c.920C>A	ENSP00000438424.1:p.Ala307Asp
ENST00000546226.5:n.1802C>A
NM_000190.3:c.1040C>A	NP_000181.2:p.Ala347Asp
NM_001024382.1:c.989C>A	NP_001019553.1:p.Ala330Asp
NM_001258208.1:c.920C>A	NP_001245137.1:p.Ala307Asp
NM_001258209.1:c.869C>A	NP_001245138.1:p.Ala290Asp
XM_005271531.1:c.989C>A	XP_005271588.1:p.Ala330Asp
XM_005271532.1:c.989C>A	XP_005271589.1:p.Ala330Asp
XM_005271533.2:c.986C>A	XP_005271590.1:p.Ala329Asp
XM_011542796.1:c.875C>A	XP_011541098.1:p.Ala292Asp
NM_000190.4:c.1040C>A MANE Select	NP_000181.2:p.Ala347Asp
NM_001024382.2:c.989C>A	NP_001019553.1:p.Ala330Asp
XM_005271533.3:c.986C>A	XP_005271590.1:p.Ala329Asp
XM_017017629.1:c.989C>A	XP_016873118.1:p.Ala330Asp
XM_024448460.1:c.866C>A	XP_024304228.1:p.Ala289Asp
NM_001258208.2:c.920C>A	NP_001245137.1:p.Ala307Asp
NM_001258209.2:c.869C>A	NP_001245138.1:p.Ala290Asp