Canonical Allele Identifier: CA382895036

Gene: HMBS

Linked Data

• ClinVar Variation Id: 652314
• ClinVar RCV Id: RCV000807846 ; RCV002249519
• dbSNP Id: rs1592217847
• MyVariant Identifiers: chr11:g.118962236G>T (hg19) ; chr11:g.119091526G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119091526G>T , CM000673.2:g.119091526G>T	GRCh38
NC_000011.9:g.118962236G>T , CM000673.1:g.118962236G>T	GRCh37
NC_000011.8:g.118467446G>T	NCBI36
NG_008093.1:g.11650G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.447G>T	ENSP00000509288.1:p.Gln149His
ENST00000686690.1:n.1462G>T
ENST00000691144.1:n.2353G>T
ENST00000691249.1:n.1196G>T
ENST00000442944.7:c.594G>T	ENSP00000392041.3:p.Gln198His
ENST00000534956.2:n.448-335G>T
ENST00000536813.6:c.561G>T	ENSP00000438726.2:p.Gln187His
ENST00000546302.6:c.534G>T	ENSP00000445599.1:p.Gln178His
ENST00000640813.1:c.448-335G>T	ENSP00000491061.1:n.448-335G>T
ENST00000648026.1:c.493-335G>T	ENSP00000498044.1:n.493-335G>T
ENST00000648374.1:c.561G>T	ENSP00000497255.1:p.Gln187His
ENST00000648488.1:c.*85+270G>T	ENSP00000498079.1:n.*85+270G>T
ENST00000649823.1:n.829G>T
ENST00000649868.1:c.*207-335G>T	ENSP00000497548.1:n.*207-335G>T
ENST00000650101.1:c.543G>T	ENSP00000496970.1:p.Gln181His
ENST00000650307.1:n.1438G>T
ENST00000652429.1:c.612G>T MANE Select	ENSP00000498786.1:p.Gln204His
ENST00000278715.7:c.612G>T	ENSP00000278715.3:p.Gln204His
ENST00000392841.1:c.561G>T	ENSP00000376584.1:p.Gln187His
ENST00000442944.6:c.561G>T	ENSP00000392041.2:p.Gln187His
ENST00000534956.1:n.415-335G>T
ENST00000535253.5:c.561G>T	ENSP00000442079.1:p.Gln187His
ENST00000535793.5:c.*507G>T	ENSP00000439904.1:n.*507G>T
ENST00000537841.5:c.561G>T	ENSP00000444730.1:p.Gln187His
ENST00000539986.5:c.561G>T	ENSP00000440092.1:p.Gln187His
ENST00000542044.5:n.1057G>T
ENST00000542345.5:n.750G>T
ENST00000542729.5:c.561G>T	ENSP00000443058.1:p.Gln187His
ENST00000542822.5:c.*548G>T	ENSP00000444817.1:n.*548G>T
ENST00000543090.5:c.558G>T	ENSP00000445429.1:p.Gln186His
ENST00000543543.5:n.847G>T
ENST00000544360.5:n.580G>T
ENST00000544387.5:c.612G>T	ENSP00000438424.1:p.Gln204His
ENST00000545621.5:c.*507G>T	ENSP00000444849.1:n.*507G>T
ENST00000546226.5:n.900G>T
ENST00000546302.5:c.534G>T	ENSP00000445599.1:p.Gln178His
NM_000190.3:c.612G>T	NP_000181.2:p.Gln204His
NM_001024382.1:c.561G>T	NP_001019553.1:p.Gln187His
NM_001258208.1:c.612G>T	NP_001245137.1:p.Gln204His
NM_001258209.1:c.561G>T	NP_001245138.1:p.Gln187His
XM_005271531.1:c.561G>T	XP_005271588.1:p.Gln187His
XM_005271532.1:c.561G>T	XP_005271589.1:p.Gln187His
XM_005271533.2:c.558G>T	XP_005271590.1:p.Gln186His
XM_011542796.1:c.447G>T	XP_011541098.1:p.Gln149His
NM_000190.4:c.612G>T MANE Select	NP_000181.2:p.Gln204His
NM_001024382.2:c.561G>T	NP_001019553.1:p.Gln187His
XM_005271533.3:c.558G>T	XP_005271590.1:p.Gln186His
XM_017017629.1:c.561G>T	XP_016873118.1:p.Gln187His
XM_024448460.1:c.558G>T	XP_024304228.1:p.Gln186His
NM_001258208.2:c.612G>T	NP_001245137.1:p.Gln204His
NM_001258209.2:c.561G>T	NP_001245138.1:p.Gln187His