Canonical Allele Identifier: CA3796278

Gene: MOCS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.39916220C>T , CM000668.2:g.39916220C>T	GRCh38
NC_000006.11:g.39883964C>T , CM000668.1:g.39883964C>T	GRCh37
NC_000006.10:g.39991942C>T	NCBI36
NG_009297.1:g.23291G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001358530.2:c.431G>A MANE Select	NP_001345459.1:p.Arg144Gln
ENST00000340692.10:c.431G>A MANE Select	ENSP00000344794.5:p.Arg144Gln
NM_001075098.3:c.431G>A	NP_001068566.1:p.Arg144Gln
NM_001075098.4:c.431G>A	NP_001068566.1:p.Arg144Gln
NM_001358529.1:c.431G>A	NP_001345458.1:p.Arg144Gln
NM_001358529.2:c.431G>A	NP_001345458.1:p.Arg144Gln
NM_001358530.1:c.431G>A	NP_001345459.1:p.Arg144Gln
NM_001358531.1:c.170G>A	NP_001345460.1:p.Arg57Gln
NM_001358531.2:c.170G>A	NP_001345460.1:p.Arg57Gln
NM_001358533.1:c.170G>A	NP_001345462.1:p.Arg57Gln
NM_001358533.2:c.170G>A	NP_001345462.1:p.Arg57Gln
NM_001358534.1:c.170G>A	NP_001345463.1:p.Arg57Gln
NM_001358534.2:c.170G>A	NP_001345463.1:p.Arg57Gln
NM_005943.5:c.431G>A	NP_005934.2:p.Arg144Gln
NM_005943.6:c.431G>A	NP_005934.2:p.Arg144Gln
NR_033233.1:n.438G>A
NR_033233.2:n.349G>A
ENST00000340692.9:c.431G>A	ENSP00000344794.5:p.Arg144Gln
ENST00000373181.8:c.170G>A	ENSP00000362277.4:p.Arg57Gln
ENST00000373186.8:c.431G>A	ENSP00000362282.4:p.Arg144Gln
ENST00000373188.6:c.431G>A	ENSP00000362284.2:p.Arg144Gln
ENST00000373195.7:c.170G>A	ENSP00000362291.3:p.Arg57Gln
ENST00000425303.6:c.431G>A	ENSP00000416478.2:p.Arg144Gln
ENST00000432280.2:c.344G>A	ENSP00000410809.2:p.Arg115Gln
ENST00000473742.1:n.311G>A
ENST00000645522.1:n.569G>A
XM_011514632.1:c.431G>A	XP_011512934.1:p.Arg144Gln
XM_011514633.1:c.431G>A	XP_011512935.1:p.Arg144Gln
XM_011514634.1:c.170G>A	XP_011512936.1:p.Arg57Gln
XM_011514635.1:c.431G>A	XP_011512937.1:p.Arg144Gln
XR_926225.1:n.476G>A