Canonical Allele Identifier: CA477369193

Gene: HMBS

Linked Data

• dbSNP Id: rs1356903903
• gnomAD v3: 11-119092973-A-G
• gnomAD v4: 11-119092973-A-G
• MyVariant Identifiers: chr11:g.118963683A>G (hg19) ; chr11:g.119092973A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092973A>G , CM000673.2:g.119092973A>G	GRCh38
NC_000011.9:g.118963683A>G , CM000673.1:g.118963683A>G	GRCh37
NC_000011.8:g.118468893A>G	NCBI36
NG_008093.1:g.13097A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.699A>G	ENSP00000509288.1:p.Ser233=
ENST00000691144.1:n.3079A>G
ENST00000691249.1:n.1688A>G
ENST00000442944.7:c.846A>G	ENSP00000392041.3:p.Ser282=
ENST00000640813.1:c.*101A>G	ENSP00000491061.1:n.*101A>G
ENST00000648026.1:c.758A>G	ENSP00000498044.1:n.758A>G
ENST00000648374.1:c.813A>G	ENSP00000497255.1:p.Ser271=
ENST00000650101.1:c.795A>G	ENSP00000496970.1:p.Ser265=
ENST00000650307.1:n.1690A>G
ENST00000652429.1:c.864A>G MANE Select	ENSP00000498786.1:p.Ser288=
ENST00000278715.7:c.864A>G	ENSP00000278715.3:p.Ser288=
ENST00000392841.1:c.813A>G	ENSP00000376584.1:p.Ser271=
ENST00000442944.6:c.813A>G	ENSP00000392041.2:p.Ser271=
ENST00000537841.5:c.813A>G	ENSP00000444730.1:p.Ser271=
ENST00000539045.1:n.363A>G
ENST00000542044.5:n.1309A>G
ENST00000542729.5:c.693A>G	ENSP00000443058.1:p.Ser231=
ENST00000543090.5:c.771A>G	ENSP00000445429.1:p.Ser257=
ENST00000543543.5:n.1339A>G
ENST00000544182.1:n.1313A>G
ENST00000544387.5:c.744A>G	ENSP00000438424.1:p.Ser248=
ENST00000546226.5:n.1626A>G
NM_000190.3:c.864A>G	NP_000181.2:p.Ser288=
NM_001024382.1:c.813A>G	NP_001019553.1:p.Ser271=
NM_001258208.1:c.744A>G	NP_001245137.1:p.Ser248=
NM_001258209.1:c.693A>G	NP_001245138.1:p.Ser231=
XM_005271531.1:c.813A>G	XP_005271588.1:p.Ser271=
XM_005271532.1:c.813A>G	XP_005271589.1:p.Ser271=
XM_005271533.2:c.810A>G	XP_005271590.1:p.Ser270=
XM_011542796.1:c.699A>G	XP_011541098.1:p.Ser233=
NM_000190.4:c.864A>G MANE Select	NP_000181.2:p.Ser288=
NM_001024382.2:c.813A>G	NP_001019553.1:p.Ser271=
XM_005271533.3:c.810A>G	XP_005271590.1:p.Ser270=
XM_017017629.1:c.813A>G	XP_016873118.1:p.Ser271=
XM_024448460.1:c.690A>G	XP_024304228.1:p.Ser230=
NM_001258208.2:c.744A>G	NP_001245137.1:p.Ser248=
NM_001258209.2:c.693A>G	NP_001245138.1:p.Ser231=