Canonical Allele Identifier: CA382899638

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963906C>A (hg19) ; chr11:g.119093196C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093196C>A , CM000673.2:g.119093196C>A	GRCh38
NC_000011.9:g.118963906C>A , CM000673.1:g.118963906C>A	GRCh37
NC_000011.8:g.118469116C>A	NCBI36
NG_008093.1:g.13320C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.834C>A	ENSP00000509288.1:p.Asn278Lys
ENST00000691144.1:n.3214C>A
ENST00000691249.1:n.1823C>A
ENST00000442944.7:c.981C>A	ENSP00000392041.3:p.Asn327Lys
ENST00000640813.1:c.*236C>A	ENSP00000491061.1:n.*236C>A
ENST00000648026.1:c.893C>A	ENSP00000498044.1:n.893C>A
ENST00000648374.1:c.948C>A	ENSP00000497255.1:p.Asn316Lys
ENST00000650101.1:c.930C>A	ENSP00000496970.1:p.Asn310Lys
ENST00000650307.1:n.1825C>A
ENST00000652429.1:c.999C>A MANE Select	ENSP00000498786.1:p.Asn333Lys
ENST00000278715.7:c.999C>A	ENSP00000278715.3:p.Asn333Lys
ENST00000392841.1:c.948C>A	ENSP00000376584.1:p.Asn316Lys
ENST00000442944.6:c.948C>A	ENSP00000392041.2:p.Asn316Lys
ENST00000537841.5:c.948C>A	ENSP00000444730.1:p.Asn316Lys
ENST00000539045.1:n.498C>A
ENST00000542044.5:n.1444C>A
ENST00000542729.5:c.828C>A	ENSP00000443058.1:p.Asn276Lys
ENST00000543090.5:c.906C>A	ENSP00000445429.1:p.Asn302Lys
ENST00000543543.5:n.1474C>A
ENST00000544182.1:n.1448C>A
ENST00000544387.5:c.879C>A	ENSP00000438424.1:p.Asn293Lys
ENST00000546226.5:n.1761C>A
NM_000190.3:c.999C>A	NP_000181.2:p.Asn333Lys
NM_001024382.1:c.948C>A	NP_001019553.1:p.Asn316Lys
NM_001258208.1:c.879C>A	NP_001245137.1:p.Asn293Lys
NM_001258209.1:c.828C>A	NP_001245138.1:p.Asn276Lys
XM_005271531.1:c.948C>A	XP_005271588.1:p.Asn316Lys
XM_005271532.1:c.948C>A	XP_005271589.1:p.Asn316Lys
XM_005271533.2:c.945C>A	XP_005271590.1:p.Asn315Lys
XM_011542796.1:c.834C>A	XP_011541098.1:p.Asn278Lys
NM_000190.4:c.999C>A MANE Select	NP_000181.2:p.Asn333Lys
NM_001024382.2:c.948C>A	NP_001019553.1:p.Asn316Lys
XM_005271533.3:c.945C>A	XP_005271590.1:p.Asn315Lys
XM_017017629.1:c.948C>A	XP_016873118.1:p.Asn316Lys
XM_024448460.1:c.825C>A	XP_024304228.1:p.Asn275Lys
NM_001258208.2:c.879C>A	NP_001245137.1:p.Asn293Lys
NM_001258209.2:c.828C>A	NP_001245138.1:p.Asn276Lys