Canonical Allele Identifier: CA450204032
Gene: MOCS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.39880034G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.39912290G>T , CM000668.2:g.39912290G>T GRCh38
NC_000006.11:g.39880034G>T , CM000668.1:g.39880034G>T GRCh37
NC_000006.10:g.39988012G>T NCBI36
NG_009297.1:g.27221C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000340692.10:c.955C>A MANE Select ENSP00000344794.5:p.Arg319=
ENST00000645522.1:n.1093C>A
ENST00000340692.9:c.955C>A ENSP00000344794.5:p.Arg319=
ENST00000373181.8:c.694C>A ENSP00000362277.4:p.Arg232=
ENST00000373186.8:c.955C>A ENSP00000362282.4:p.Arg319=
ENST00000373188.6:c.955C>A ENSP00000362284.2:p.Arg319=
ENST00000373195.7:c.694C>A ENSP00000362291.3:p.Arg232=
ENST00000425303.6:c.955C>A ENSP00000416478.2:p.Arg319=
ENST00000432280.2:c.868C>A ENSP00000410809.2:p.Arg290=
NM_001075098.3:c.955C>A NP_001068566.1:p.Arg319=
NM_005943.5:c.955C>A NP_005934.2:p.Arg319=
NR_033233.1:n.962C>A
XM_011514632.1:c.955C>A XP_011512934.1:p.Arg319=
XM_011514633.1:c.955C>A XP_011512935.1:p.Arg319=
XM_011514634.1:c.694C>A XP_011512936.1:p.Arg232=
XM_011514635.1:c.955C>A XP_011512937.1:p.Arg319=
XR_926225.1:n.1000C>A
NM_001358529.1:c.955C>A NP_001345458.1:p.Arg319=
NM_001358530.1:c.955C>A NP_001345459.1:p.Arg319=
NM_001358531.1:c.694C>A NP_001345460.1:p.Arg232=
NM_001358533.1:c.694C>A NP_001345462.1:p.Arg232=
NM_001358534.1:c.694C>A NP_001345463.1:p.Arg232=
NM_001358530.2:c.955C>A MANE Select NP_001345459.1:p.Arg319=
NM_001075098.4:c.955C>A NP_001068566.1:p.Arg319=
NM_001358529.2:c.955C>A NP_001345458.1:p.Arg319=
NM_001358531.2:c.694C>A NP_001345460.1:p.Arg232=
NM_001358533.2:c.694C>A NP_001345462.1:p.Arg232=
NR_033233.2:n.873C>A
NM_001358534.2:c.694C>A NP_001345463.1:p.Arg232=
NM_005943.6:c.955C>A NP_005934.2:p.Arg319=