Canonical Allele Identifier: CA251797

Gene: HMBS

Linked Data

• ClinVar Variation Id: 1447
• ClinVar RCV Id: RCV000001512 ; RCV001851550 ; RCV003764511
• dbSNP Id: rs118204096
• gnomAD v4: 11-119091432-G-A
• MyVariant Identifiers: chr11:g.118962142G>A (hg19) ; chr11:g.119091432G>A (hg38)
• PubMed: PMID:1301948 ; PMID:2243128

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
ENST00000686218.1:c.353G>A	ENSP00000509288.1:p.Arg118Gln
ENST00000686690.1:n.1368G>A
ENST00000691144.1:n.2259G>A
ENST00000691249.1:n.1102G>A
ENST00000442944.7:c.500G>A	ENSP00000392041.3:p.Arg167Gln
ENST00000534956.2:n.448-429G>A
ENST00000536813.6:c.467G>A	ENSP00000438726.2:p.Arg156Gln
ENST00000546302.6:c.440G>A	ENSP00000445599.1:p.Arg147Gln
ENST00000640813.1:c.448-429G>A	ENSP00000491061.1:n.448-429G>A
ENST00000648026.1:c.493-429G>A	ENSP00000498044.1:n.493-429G>A
ENST00000648374.1:c.467G>A	ENSP00000497255.1:p.Arg156Gln
ENST00000648488.1:c.*85+176G>A	ENSP00000498079.1:n.*85+176G>A
ENST00000649823.1:n.735G>A
ENST00000649868.1:c.*207-429G>A	ENSP00000497548.1:n.*207-429G>A
ENST00000650101.1:c.449G>A	ENSP00000496970.1:p.Arg150Gln
ENST00000650307.1:n.1344G>A
ENST00000652429.1:c.518G>A MANE Select	ENSP00000498786.1:p.Arg173Gln
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:n.*413G>A
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:n.*454G>A
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:n.*413G>A
ENST00000546226.5:n.806G>A
ENST00000546302.5:c.440G>A	ENSP00000445599.1:p.Arg147Gln
NM_000190.3:c.518G>A	NP_000181.2:p.Arg173Gln
NM_001024382.1:c.467G>A	NP_001019553.1:p.Arg156Gln
NM_001258208.1:c.518G>A	NP_001245137.1:p.Arg173Gln
NM_001258209.1:c.467G>A	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 MANE Select	NP_000181.2:p.Arg173Gln
NM_001024382.2:c.467G>A	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
NM_001258208.2:c.518G>A	NP_001245137.1:p.Arg173Gln
NM_001258209.2:c.467G>A	NP_001245138.1:p.Arg156Gln