Canonical Allele Identifier: CA3795941

Gene: MOCS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.39906800G>A , CM000668.2:g.39906800G>A	GRCh38
NC_000006.11:g.39874576G>A , CM000668.1:g.39874576G>A	GRCh37
NC_000006.10:g.39982554G>A	NCBI36
NG_009297.1:g.32679C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001358530.2:c.1468C>T MANE Select	NP_001345459.1:p.Arg490Trp
ENST00000340692.10:c.1468C>T MANE Select	ENSP00000344794.5:p.Arg490Trp
NM_001075098.3:c.*325C>T	NP_001068566.1:n.*325C>T
NM_001075098.4:c.*325C>T	NP_001068566.1:n.*325C>T
NM_001358529.1:c.1420C>T	NP_001345458.1:p.Arg474Trp
NM_001358529.2:c.1420C>T	NP_001345458.1:p.Arg474Trp
NM_001358530.1:c.1468C>T	NP_001345459.1:p.Arg490Trp
NM_001358531.1:c.1207C>T	NP_001345460.1:p.Arg403Trp
NM_001358531.2:c.1207C>T	NP_001345460.1:p.Arg403Trp
NM_001358533.1:c.*325C>T	NP_001345462.1:n.*325C>T
NM_001358533.2:c.*325C>T	NP_001345462.1:n.*325C>T
NM_001358534.1:c.*325C>T	NP_001345463.1:n.*325C>T
NM_001358534.2:c.*325C>T	NP_001345463.1:n.*325C>T
NM_005943.5:c.*325C>T	NP_005934.2:n.*325C>T
NM_005943.6:c.*325C>T	NP_005934.2:n.*325C>T
NR_033233.1:n.1427C>T
NR_033233.2:n.1338C>T
ENST00000340692.9:c.1468C>T	ENSP00000344794.5:p.Arg490Trp
ENST00000373181.8:c.842-2538C>T	ENSP00000362277.4:n.842-2538C>T
ENST00000373186.8:c.*325C>T	ENSP00000362282.4:n.*325C>T
ENST00000373188.6:c.*325C>T	ENSP00000362284.2:n.*325C>T
ENST00000373195.7:c.1159C>T	ENSP00000362291.3:p.Arg387Trp
ENST00000425303.6:c.1468C>T	ENSP00000416478.2:p.Arg490Trp
ENST00000645522.1:n.1621C>T
XM_011514632.1:c.1468C>T	XP_011512934.1:p.Arg490Trp
XM_011514633.1:c.1420C>T	XP_011512935.1:p.Arg474Trp
XM_011514634.1:c.1207C>T	XP_011512936.1:p.Arg403Trp
XM_011514635.1:c.1150+2255C>T	XP_011512937.1:n.1150+2255C>T
XR_926225.1:n.1513C>T