Canonical Allele Identifier: CA3795897

Gene: MOCS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.39906516C>T , CM000668.2:g.39906516C>T	GRCh38
NC_000006.11:g.39874292C>T , CM000668.1:g.39874292C>T	GRCh37
NC_000006.10:g.39982270C>T	NCBI36
NG_009297.1:g.32963G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001358530.2:c.1752G>A MANE Select	NP_001345459.1:p.Arg584=
ENST00000340692.10:c.1752G>A MANE Select	ENSP00000344794.5:p.Arg584=
NM_001075098.3:c.*609G>A	NP_001068566.1:n.*609G>A
NM_001075098.4:c.*609G>A	NP_001068566.1:n.*609G>A
NM_001358529.1:c.1704G>A	NP_001345458.1:p.Arg568=
NM_001358529.2:c.1704G>A	NP_001345458.1:p.Arg568=
NM_001358530.1:c.1752G>A	NP_001345459.1:p.Arg584=
NM_001358531.1:c.1491G>A	NP_001345460.1:p.Arg497=
NM_001358531.2:c.1491G>A	NP_001345460.1:p.Arg497=
NM_001358533.1:c.*609G>A	NP_001345462.1:n.*609G>A
NM_001358533.2:c.*609G>A	NP_001345462.1:n.*609G>A
NM_001358534.1:c.*609G>A	NP_001345463.1:n.*609G>A
NM_001358534.2:c.*609G>A	NP_001345463.1:n.*609G>A
NM_005943.5:c.*609G>A	NP_005934.2:n.*609G>A
NM_005943.6:c.*609G>A	NP_005934.2:n.*609G>A
NR_033233.1:n.1711G>A
NR_033233.2:n.1622G>A
ENST00000340692.9:c.1752G>A	ENSP00000344794.5:p.Arg584=
ENST00000373181.8:c.842-2254G>A	ENSP00000362277.4:n.842-2254G>A
ENST00000373186.8:c.*609G>A	ENSP00000362282.4:n.*609G>A
ENST00000373188.6:c.*609G>A	ENSP00000362284.2:n.*609G>A
ENST00000373195.7:c.1443G>A	ENSP00000362291.3:p.Arg481=
ENST00000425303.6:c.1752G>A	ENSP00000416478.2:p.Arg584=
ENST00000645522.1:n.1905G>A
XM_011514632.1:c.1752G>A	XP_011512934.1:p.Arg584=
XM_011514633.1:c.1704G>A	XP_011512935.1:p.Arg568=
XM_011514634.1:c.1491G>A	XP_011512936.1:p.Arg497=
XM_011514635.1:c.1151-2254G>A	XP_011512937.1:n.1151-2254G>A
XR_926225.1:n.1797G>A