Canonical Allele Identifier: CA382889290

Gene: HMBS

Linked Data

• dbSNP Id: rs2134859062
• MyVariant Identifiers: chr11:g.118959816A>G (hg19) ; chr11:g.119089106A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119089106A>G , CM000673.2:g.119089106A>G	GRCh38
NC_000011.9:g.118959816A>G , CM000673.1:g.118959816A>G	GRCh37
NC_000011.8:g.118465026A>G	NCBI36
NG_008093.1:g.9230A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.20A>G	ENSP00000509288.1:p.Lys7Arg
ENST00000686690.1:n.721A>G
ENST00000691144.1:n.1841A>G
ENST00000691249.1:n.769A>G
ENST00000442944.7:c.167A>G	ENSP00000392041.3:p.Lys56Arg
ENST00000534956.2:n.134A>G
ENST00000536813.6:c.134A>G	ENSP00000438726.2:p.Lys45Arg
ENST00000546302.6:c.185A>G	ENSP00000445599.1:p.Lys62Arg
ENST00000640813.1:c.134A>G	ENSP00000491061.1:p.Lys45Arg
ENST00000648026.1:c.179A>G	ENSP00000498044.1:p.Lys60Arg
ENST00000648374.1:c.134A>G	ENSP00000497255.1:p.Lys45Arg
ENST00000648488.1:c.134A>G	ENSP00000498079.1:p.Lys45Arg
ENST00000649823.1:n.402A>G
ENST00000649868.1:c.40A>G	ENSP00000497548.1:p.Arg14Gly
ENST00000650101.1:c.116A>G	ENSP00000496970.1:p.Lys39Arg
ENST00000650307.1:n.1011A>G
ENST00000652429.1:c.185A>G MANE Select	ENSP00000498786.1:p.Lys62Arg
ENST00000278715.7:c.185A>G	ENSP00000278715.3:p.Lys62Arg
ENST00000392841.1:c.134A>G	ENSP00000376584.1:p.Lys45Arg
ENST00000442944.6:c.134A>G	ENSP00000392041.2:p.Lys45Arg
ENST00000534956.1:n.101A>G
ENST00000535253.5:c.134A>G	ENSP00000442079.1:p.Lys45Arg
ENST00000535793.5:c.*80A>G	ENSP00000439904.1:n.*80A>G
ENST00000536185.5:n.329-111A>G
ENST00000536813.5:c.167A>G	ENSP00000438726.1:p.Lys56Arg
ENST00000537841.5:c.134A>G	ENSP00000444730.1:p.Lys45Arg
ENST00000539986.5:c.134A>G	ENSP00000440092.1:p.Lys45Arg
ENST00000542044.5:n.630A>G
ENST00000542345.5:n.323A>G
ENST00000542729.5:c.134A>G	ENSP00000443058.1:p.Lys45Arg
ENST00000542822.5:c.*147-111A>G	ENSP00000444817.1:n.*147-111A>G
ENST00000543090.5:c.131A>G	ENSP00000445429.1:p.Lys44Arg
ENST00000543543.5:n.420A>G
ENST00000543821.5:n.331A>G
ENST00000544360.5:n.153A>G
ENST00000544387.5:c.185A>G	ENSP00000438424.1:p.Lys62Arg
ENST00000545621.5:c.*80A>G	ENSP00000444849.1:n.*80A>G
ENST00000546226.5:n.244A>G
ENST00000546302.5:c.185A>G	ENSP00000445599.1:p.Lys62Arg
NM_000190.3:c.185A>G	NP_000181.2:p.Lys62Arg
NM_001024382.1:c.134A>G	NP_001019553.1:p.Lys45Arg
NM_001258208.1:c.185A>G	NP_001245137.1:p.Lys62Arg
NM_001258209.1:c.134A>G	NP_001245138.1:p.Lys45Arg
XM_005271531.1:c.134A>G	XP_005271588.1:p.Lys45Arg
XM_005271532.1:c.134A>G	XP_005271589.1:p.Lys45Arg
XM_005271533.2:c.131A>G	XP_005271590.1:p.Lys44Arg
XM_011542796.1:c.20A>G	XP_011541098.1:p.Lys7Arg
NM_000190.4:c.185A>G MANE Select	NP_000181.2:p.Lys62Arg
NM_001024382.2:c.134A>G	NP_001019553.1:p.Lys45Arg
XM_005271533.3:c.131A>G	XP_005271590.1:p.Lys44Arg
XM_017017629.1:c.134A>G	XP_016873118.1:p.Lys45Arg
XM_024448460.1:c.131A>G	XP_024304228.1:p.Lys44Arg
NM_001258208.2:c.185A>G	NP_001245137.1:p.Lys62Arg
NM_001258209.2:c.134A>G	NP_001245138.1:p.Lys45Arg