Canonical Allele Identifier: CA251797
Gene: HMBS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 1447
ClinVar RCV Id: RCV000001512
dbSNP Id: rs118204096

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119091432G>A , CM000673.2:g.119091432G>A GRCh38
NC_000011.9:g.118962142G>A , CM000673.1:g.118962142G>A GRCh37
NC_000011.8:g.118467352G>A NCBI36
NG_008093.1:g.11556G>A

Transcript Alleles

HGVS Amino-acid change
NM_000190.3:c.518G>A VV NP_000181.2:p.Arg173Gln
NM_001024382.1:c.467G>A VV NP_001019553.1:p.Arg156Gln
NM_001258208.1:c.518G>A VV NP_001245137.1:p.Arg173Gln
NM_001258209.1:c.467G>A VV NP_001245138.1:p.Arg156Gln
XM_005271531.1:c.467G>A XP_005271588.1:p.Arg156Gln
XM_005271532.1:c.467G>A XP_005271589.1:p.Arg156Gln
XM_005271533.2:c.464G>A XP_005271590.1:p.Arg155Gln
XM_011542796.1:c.353G>A XP_011541098.1:p.Arg118Gln
NM_000190.4:c.518G>A VV NP_000181.2:p.Arg173Gln
NM_001024382.2:c.467G>A VV NP_001019553.1:p.Arg156Gln
XM_005271533.3:c.464G>A XP_005271590.1:p.Arg155Gln
XM_017017629.1:c.467G>A XP_016873118.1:p.Arg156Gln
XM_024448460.1:c.464G>A XP_024304228.1:p.Arg155Gln
ENST00000278715.7:c.518G>A ENSP00000278715.3:p.Arg173Gln
ENST00000392841.1:c.467G>A ENSP00000376584.1:p.Arg156Gln
ENST00000442944.6:c.467G>A ENSP00000392041.2:p.Arg156Gln
ENST00000534956.1:n.415-429G>A
ENST00000535253.5:c.467G>A ENSP00000442079.1:p.Arg156Gln
ENST00000535793.5:c.*413G>A ENSP00000439904.1:p.=
ENST00000537841.5:c.467G>A ENSP00000444730.1:p.Arg156Gln
ENST00000539986.5:c.467G>A ENSP00000440092.1:p.Arg156Gln
ENST00000542044.5:n.963G>A
ENST00000542345.5:n.656G>A
ENST00000542729.5:c.467G>A ENSP00000443058.1:p.Arg156Gln
ENST00000542822.5:c.*454G>A ENSP00000444817.1:p.=
ENST00000543090.5:c.464G>A ENSP00000445429.1:p.Arg155Gln
ENST00000543543.5:n.753G>A
ENST00000544360.5:n.486G>A
ENST00000544387.5:c.518G>A ENSP00000438424.1:p.Arg173Gln
ENST00000545621.5:c.*413G>A ENSP00000444849.1:p.=
ENST00000546226.5:n.806G>A
ENST00000546302.5:c.440G>A ENSP00000445599.1:p.Arg147Gln