Canonical Allele Identifier: CA364041168

Gene: MOCS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.39907062C>T , CM000668.2:g.39907062C>T	GRCh38
NC_000006.11:g.39874838C>T , CM000668.1:g.39874838C>T	GRCh37
NC_000006.10:g.39982816C>T	NCBI36
NG_009297.1:g.32417G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001358530.2:c.1206G>A MANE Select	NP_001345459.1:p.Trp402Ter
ENST00000340692.10:c.1206G>A MANE Select	ENSP00000344794.5:p.Trp402Ter
NM_001075098.3:c.*63G>A	NP_001068566.1:n.*63G>A
NM_001075098.4:c.*63G>A	NP_001068566.1:n.*63G>A
NM_001358529.1:c.1158G>A	NP_001345458.1:p.Trp386Ter
NM_001358529.2:c.1158G>A	NP_001345458.1:p.Trp386Ter
NM_001358530.1:c.1206G>A	NP_001345459.1:p.Trp402Ter
NM_001358531.1:c.945G>A	NP_001345460.1:p.Trp315Ter
NM_001358531.2:c.945G>A	NP_001345460.1:p.Trp315Ter
NM_001358533.1:c.*63G>A	NP_001345462.1:n.*63G>A
NM_001358533.2:c.*63G>A	NP_001345462.1:n.*63G>A
NM_001358534.1:c.*63G>A	NP_001345463.1:n.*63G>A
NM_001358534.2:c.*63G>A	NP_001345463.1:n.*63G>A
NM_005943.5:c.*63G>A	NP_005934.2:n.*63G>A
NM_005943.6:c.*63G>A	NP_005934.2:n.*63G>A
NR_033233.1:n.1165G>A
NR_033233.2:n.1076G>A
ENST00000340692.9:c.1206G>A	ENSP00000344794.5:p.Trp402Ter
ENST00000373181.8:c.841+2773G>A	ENSP00000362277.4:n.841+2773G>A
ENST00000373186.8:c.*63G>A	ENSP00000362282.4:n.*63G>A
ENST00000373188.6:c.*63G>A	ENSP00000362284.2:n.*63G>A
ENST00000373195.7:c.897G>A	ENSP00000362291.3:p.Trp299Ter
ENST00000425303.6:c.1206G>A	ENSP00000416478.2:p.Trp402Ter
ENST00000645522.1:n.1359G>A
XM_011514632.1:c.1206G>A	XP_011512934.1:p.Trp402Ter
XM_011514633.1:c.1158G>A	XP_011512935.1:p.Trp386Ter
XM_011514634.1:c.945G>A	XP_011512936.1:p.Trp315Ter
XM_011514635.1:c.1150+1993G>A	XP_011512937.1:n.1150+1993G>A
XR_926225.1:n.1251G>A