Canonical Allele Identifier: CA251840

Gene: HMBS

Linked Data

• ClinVar Variation Id: 1483
• ClinVar RCV Id: RCV000001548 ; RCV000418446
• dbSNP Id: rs118204117
• MyVariant Identifiers: chr11:g.118963668G>A (hg19) ; chr11:g.119092958G>A (hg38)
• PubMed: PMID:7962538 ; PMID:12566739

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092958G>A , CM000673.2:g.119092958G>A	GRCh38
NC_000011.9:g.118963668G>A , CM000673.1:g.118963668G>A	GRCh37
NC_000011.8:g.118468878G>A	NCBI36
NG_008093.1:g.13082G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.684G>A	ENSP00000509288.1:p.Trp228Ter
ENST00000691144.1:n.3064G>A
ENST00000691249.1:n.1673G>A
ENST00000442944.7:c.831G>A	ENSP00000392041.3:p.Trp277Ter
ENST00000640813.1:c.*86G>A	ENSP00000491061.1:n.*86G>A
ENST00000648026.1:c.743G>A	ENSP00000498044.1:n.743G>A
ENST00000648374.1:c.798G>A	ENSP00000497255.1:p.Trp266Ter
ENST00000650101.1:c.780G>A	ENSP00000496970.1:p.Trp260Ter
ENST00000650307.1:n.1675G>A
ENST00000652429.1:c.849G>A MANE Select	ENSP00000498786.1:p.Trp283Ter
ENST00000278715.7:c.849G>A	ENSP00000278715.3:p.Trp283Ter
ENST00000392841.1:c.798G>A	ENSP00000376584.1:p.Trp266Ter
ENST00000442944.6:c.798G>A	ENSP00000392041.2:p.Trp266Ter
ENST00000537841.5:c.798G>A	ENSP00000444730.1:p.Trp266Ter
ENST00000539045.1:n.348G>A
ENST00000542044.5:n.1294G>A
ENST00000542729.5:c.678G>A	ENSP00000443058.1:p.Trp226Ter
ENST00000543090.5:c.756G>A	ENSP00000445429.1:p.Trp252Ter
ENST00000543543.5:n.1324G>A
ENST00000544182.1:n.1298G>A
ENST00000544387.5:c.729G>A	ENSP00000438424.1:p.Trp243Ter
ENST00000546226.5:n.1611G>A
NM_000190.3:c.849G>A	NP_000181.2:p.Trp283Ter
NM_001024382.1:c.798G>A	NP_001019553.1:p.Trp266Ter
NM_001258208.1:c.729G>A	NP_001245137.1:p.Trp243Ter
NM_001258209.1:c.678G>A	NP_001245138.1:p.Trp226Ter
XM_005271531.1:c.798G>A	XP_005271588.1:p.Trp266Ter
XM_005271532.1:c.798G>A	XP_005271589.1:p.Trp266Ter
XM_005271533.2:c.795G>A	XP_005271590.1:p.Trp265Ter
XM_011542796.1:c.684G>A	XP_011541098.1:p.Trp228Ter
NM_000190.4:c.849G>A MANE Select	NP_000181.2:p.Trp283Ter
NM_001024382.2:c.798G>A	NP_001019553.1:p.Trp266Ter
XM_005271533.3:c.795G>A	XP_005271590.1:p.Trp265Ter
XM_017017629.1:c.798G>A	XP_016873118.1:p.Trp266Ter
XM_024448460.1:c.675G>A	XP_024304228.1:p.Trp225Ter
NM_001258208.2:c.729G>A	NP_001245137.1:p.Trp243Ter
NM_001258209.2:c.678G>A	NP_001245138.1:p.Trp226Ter