Canonical Allele Identifier: CA3795960

Gene: MOCS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.39906906G>A , CM000668.2:g.39906906G>A	GRCh38
NC_000006.11:g.39874682G>A , CM000668.1:g.39874682G>A	GRCh37
NC_000006.10:g.39982660G>A	NCBI36
NG_009297.1:g.32573C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001358530.2:c.1362C>T MANE Select	NP_001345459.1:p.Asp454=
ENST00000340692.10:c.1362C>T MANE Select	ENSP00000344794.5:p.Asp454=
NM_001075098.3:c.*219C>T	NP_001068566.1:n.*219C>T
NM_001075098.4:c.*219C>T	NP_001068566.1:n.*219C>T
NM_001358529.1:c.1314C>T	NP_001345458.1:p.Asp438=
NM_001358529.2:c.1314C>T	NP_001345458.1:p.Asp438=
NM_001358530.1:c.1362C>T	NP_001345459.1:p.Asp454=
NM_001358531.1:c.1101C>T	NP_001345460.1:p.Asp367=
NM_001358531.2:c.1101C>T	NP_001345460.1:p.Asp367=
NM_001358533.1:c.*219C>T	NP_001345462.1:n.*219C>T
NM_001358533.2:c.*219C>T	NP_001345462.1:n.*219C>T
NM_001358534.1:c.*219C>T	NP_001345463.1:n.*219C>T
NM_001358534.2:c.*219C>T	NP_001345463.1:n.*219C>T
NM_005943.5:c.*219C>T	NP_005934.2:n.*219C>T
NM_005943.6:c.*219C>T	NP_005934.2:n.*219C>T
NR_033233.1:n.1321C>T
NR_033233.2:n.1232C>T
ENST00000340692.9:c.1362C>T	ENSP00000344794.5:p.Asp454=
ENST00000373181.8:c.842-2644C>T	ENSP00000362277.4:n.842-2644C>T
ENST00000373186.8:c.*219C>T	ENSP00000362282.4:n.*219C>T
ENST00000373188.6:c.*219C>T	ENSP00000362284.2:n.*219C>T
ENST00000373195.7:c.1053C>T	ENSP00000362291.3:p.Asp351=
ENST00000425303.6:c.1362C>T	ENSP00000416478.2:p.Asp454=
ENST00000645522.1:n.1515C>T
XM_011514632.1:c.1362C>T	XP_011512934.1:p.Asp454=
XM_011514633.1:c.1314C>T	XP_011512935.1:p.Asp438=
XM_011514634.1:c.1101C>T	XP_011512936.1:p.Asp367=
XM_011514635.1:c.1150+2149C>T	XP_011512937.1:n.1150+2149C>T
XR_926225.1:n.1407C>T