Canonical Allele Identifier: CA382898930

Gene: HMBS

Linked Data

• dbSNP Id: rs1266812616
• gnomAD v2: 11-118963712-C-A
• gnomAD v4: 11-119093002-C-A
• MyVariant Identifiers: chr11:g.118963712C>A (hg19) ; chr11:g.119093002C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093002C>A , CM000673.2:g.119093002C>A	GRCh38
NC_000011.9:g.118963712C>A , CM000673.1:g.118963712C>A	GRCh37
NC_000011.8:g.118468922C>A	NCBI36
NG_008093.1:g.13126C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.728C>A	ENSP00000509288.1:p.Thr243Asn
ENST00000691144.1:n.3108C>A
ENST00000691249.1:n.1717C>A
ENST00000442944.7:c.875C>A	ENSP00000392041.3:p.Thr292Asn
ENST00000640813.1:c.*130C>A	ENSP00000491061.1:n.*130C>A
ENST00000648026.1:c.787C>A	ENSP00000498044.1:n.787C>A
ENST00000648374.1:c.842C>A	ENSP00000497255.1:p.Thr281Asn
ENST00000650101.1:c.824C>A	ENSP00000496970.1:p.Thr275Asn
ENST00000650307.1:n.1719C>A
ENST00000652429.1:c.893C>A MANE Select	ENSP00000498786.1:p.Thr298Asn
ENST00000278715.7:c.893C>A	ENSP00000278715.3:p.Thr298Asn
ENST00000392841.1:c.842C>A	ENSP00000376584.1:p.Thr281Asn
ENST00000442944.6:c.842C>A	ENSP00000392041.2:p.Thr281Asn
ENST00000537841.5:c.842C>A	ENSP00000444730.1:p.Thr281Asn
ENST00000539045.1:n.392C>A
ENST00000542044.5:n.1338C>A
ENST00000542729.5:c.722C>A	ENSP00000443058.1:p.Thr241Asn
ENST00000543090.5:c.800C>A	ENSP00000445429.1:p.Thr267Asn
ENST00000543543.5:n.1368C>A
ENST00000544182.1:n.1342C>A
ENST00000544387.5:c.773C>A	ENSP00000438424.1:p.Thr258Asn
ENST00000546226.5:n.1655C>A
NM_000190.3:c.893C>A	NP_000181.2:p.Thr298Asn
NM_001024382.1:c.842C>A	NP_001019553.1:p.Thr281Asn
NM_001258208.1:c.773C>A	NP_001245137.1:p.Thr258Asn
NM_001258209.1:c.722C>A	NP_001245138.1:p.Thr241Asn
XM_005271531.1:c.842C>A	XP_005271588.1:p.Thr281Asn
XM_005271532.1:c.842C>A	XP_005271589.1:p.Thr281Asn
XM_005271533.2:c.839C>A	XP_005271590.1:p.Thr280Asn
XM_011542796.1:c.728C>A	XP_011541098.1:p.Thr243Asn
NM_000190.4:c.893C>A MANE Select	NP_000181.2:p.Thr298Asn
NM_001024382.2:c.842C>A	NP_001019553.1:p.Thr281Asn
XM_005271533.3:c.839C>A	XP_005271590.1:p.Thr280Asn
XM_017017629.1:c.842C>A	XP_016873118.1:p.Thr281Asn
XM_024448460.1:c.719C>A	XP_024304228.1:p.Thr240Asn
NM_001258208.2:c.773C>A	NP_001245137.1:p.Thr258Asn
NM_001258209.2:c.722C>A	NP_001245138.1:p.Thr241Asn