Canonical Allele Identifier: CA272874

Gene: HMBS

Linked Data

• ClinVar Variation Id: 161250
• ClinVar RCV Id: RCV000148508 ; RCV000730694
• dbSNP Id: rs150428209
• ExAC: 11:118963869 G / A
• gnomAD v2: 11-118963869-G-A
• gnomAD v3: 11-119093159-G-A
• gnomAD v4: 11-119093159-G-A
• MyVariant Identifiers: chr11:g.118963869G>A (hg19) ; chr11:g.119093159G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093159G>A , CM000673.2:g.119093159G>A	GRCh38
NC_000011.9:g.118963869G>A , CM000673.1:g.118963869G>A	GRCh37
NC_000011.8:g.118469079G>A	NCBI36
NG_008093.1:g.13283G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.797G>A	ENSP00000509288.1:p.Arg266His
ENST00000691144.1:n.3177G>A
ENST00000691249.1:n.1786G>A
ENST00000442944.7:c.944G>A	ENSP00000392041.3:p.Arg315His
ENST00000640813.1:c.*199G>A	ENSP00000491061.1:n.*199G>A
ENST00000648026.1:c.856G>A	ENSP00000498044.1:n.856G>A
ENST00000648374.1:c.911G>A	ENSP00000497255.1:p.Arg304His
ENST00000650101.1:c.893G>A	ENSP00000496970.1:p.Arg298His
ENST00000650307.1:n.1788G>A
ENST00000652429.1:c.962G>A MANE Select	ENSP00000498786.1:p.Arg321His
ENST00000278715.7:c.962G>A	ENSP00000278715.3:p.Arg321His
ENST00000392841.1:c.911G>A	ENSP00000376584.1:p.Arg304His
ENST00000442944.6:c.911G>A	ENSP00000392041.2:p.Arg304His
ENST00000537841.5:c.911G>A	ENSP00000444730.1:p.Arg304His
ENST00000539045.1:n.461G>A
ENST00000542044.5:n.1407G>A
ENST00000542729.5:c.791G>A	ENSP00000443058.1:p.Arg264His
ENST00000543090.5:c.869G>A	ENSP00000445429.1:p.Arg290His
ENST00000543543.5:n.1437G>A
ENST00000544182.1:n.1411G>A
ENST00000544387.5:c.842G>A	ENSP00000438424.1:p.Arg281His
ENST00000546226.5:n.1724G>A
NM_000190.3:c.962G>A	NP_000181.2:p.Arg321His
NM_001024382.1:c.911G>A	NP_001019553.1:p.Arg304His
NM_001258208.1:c.842G>A	NP_001245137.1:p.Arg281His
NM_001258209.1:c.791G>A	NP_001245138.1:p.Arg264His
XM_005271531.1:c.911G>A	XP_005271588.1:p.Arg304His
XM_005271532.1:c.911G>A	XP_005271589.1:p.Arg304His
XM_005271533.2:c.908G>A	XP_005271590.1:p.Arg303His
XM_011542796.1:c.797G>A	XP_011541098.1:p.Arg266His
NM_000190.4:c.962G>A MANE Select	NP_000181.2:p.Arg321His
NM_001024382.2:c.911G>A	NP_001019553.1:p.Arg304His
XM_005271533.3:c.908G>A	XP_005271590.1:p.Arg303His
XM_017017629.1:c.911G>A	XP_016873118.1:p.Arg304His
XM_024448460.1:c.788G>A	XP_024304228.1:p.Arg263His
NM_001258208.2:c.842G>A	NP_001245137.1:p.Arg281His
NM_001258209.2:c.791G>A	NP_001245138.1:p.Arg264His