Canonical Allele Identifier: CA3795981

Gene: MOCS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.39907046G>A , CM000668.2:g.39907046G>A	GRCh38
NC_000006.11:g.39874822G>A , CM000668.1:g.39874822G>A	GRCh37
NC_000006.10:g.39982800G>A	NCBI36
NG_009297.1:g.32433C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001358530.2:c.1222C>T MANE Select	NP_001345459.1:p.Gln408Ter
ENST00000340692.10:c.1222C>T MANE Select	ENSP00000344794.5:p.Gln408Ter
NM_001075098.3:c.*79C>T	NP_001068566.1:n.*79C>T
NM_001075098.4:c.*79C>T	NP_001068566.1:n.*79C>T
NM_001358529.1:c.1174C>T	NP_001345458.1:p.Gln392Ter
NM_001358529.2:c.1174C>T	NP_001345458.1:p.Gln392Ter
NM_001358530.1:c.1222C>T	NP_001345459.1:p.Gln408Ter
NM_001358531.1:c.961C>T	NP_001345460.1:p.Gln321Ter
NM_001358531.2:c.961C>T	NP_001345460.1:p.Gln321Ter
NM_001358533.1:c.*79C>T	NP_001345462.1:n.*79C>T
NM_001358533.2:c.*79C>T	NP_001345462.1:n.*79C>T
NM_001358534.1:c.*79C>T	NP_001345463.1:n.*79C>T
NM_001358534.2:c.*79C>T	NP_001345463.1:n.*79C>T
NM_005943.5:c.*79C>T	NP_005934.2:n.*79C>T
NM_005943.6:c.*79C>T	NP_005934.2:n.*79C>T
NR_033233.1:n.1181C>T
NR_033233.2:n.1092C>T
ENST00000340692.9:c.1222C>T	ENSP00000344794.5:p.Gln408Ter
ENST00000373181.8:c.842-2784C>T	ENSP00000362277.4:n.842-2784C>T
ENST00000373186.8:c.*79C>T	ENSP00000362282.4:n.*79C>T
ENST00000373188.6:c.*79C>T	ENSP00000362284.2:n.*79C>T
ENST00000373195.7:c.913C>T	ENSP00000362291.3:p.Gln305Ter
ENST00000425303.6:c.1222C>T	ENSP00000416478.2:p.Gln408Ter
ENST00000645522.1:n.1375C>T
XM_011514632.1:c.1222C>T	XP_011512934.1:p.Gln408Ter
XM_011514633.1:c.1174C>T	XP_011512935.1:p.Gln392Ter
XM_011514634.1:c.961C>T	XP_011512936.1:p.Gln321Ter
XM_011514635.1:c.1150+2009C>T	XP_011512937.1:n.1150+2009C>T
XR_926225.1:n.1267C>T