Canonical Allele Identifier: CA477369195
Gene: HMBS HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.118963683A>C (hg19)

Genomic Alleles

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

Transcript Alleles

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