Canonical Allele Identifier: CA645372426

Gene: MOCS1

Linked Data

• PubMed: PMID:21031595

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.[39909922G>A;39912909C>T] , CM000668.2:g.[39909922G>A;39912909C>T]	GRCh38
NC_000006.11:g.[39877666G>A;39880653C>T] , CM000668.1:g.[39877666G>A;39880653C>T]	GRCh37
NC_000006.10:g.[39985644G>A;39988631C>T]	NCBI36
NG_009297.1:g.[26602G>A;29589C>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340692.10:c.[853G>A;1015C>T] MANE Select	ENSP00000344794.5:p.[Glu285Lys;Arg339Trp]
ENST00000645522.1:n.[991G>A;1153C>T]
ENST00000340692.9:c.[853G>A;1015C>T]	ENSP00000344794.5:p.[Glu285Lys;Arg339Trp]
ENST00000373181.8:c.[592G>A;754C>T]	ENSP00000362277.4:p.[Glu198Lys;Arg252Trp]
ENST00000373186.8:c.[853G>A;1015C>T]	ENSP00000362282.4:p.[Glu285Lys;Arg339Trp]
ENST00000373188.6:c.[853G>A;1015C>T]	ENSP00000362284.2:p.[Glu285Lys;Arg339Trp]
ENST00000373195.7:c.[592G>A;754C>T]	ENSP00000362291.3:p.[Glu198Lys;Arg252Trp]
ENST00000425303.6:c.[853G>A;1015C>T]	ENSP00000416478.2:p.[Glu285Lys;Arg339Trp]
ENST00000432280.2:c.[766G>A;928C>T]	ENSP00000410809.2:p.[Glu256Lys;Arg310Trp]
NM_001075098.3:c.[853G>A;1015C>T]	NP_001068566.1:p.[Glu285Lys;Arg339Trp]
NM_005943.5:c.[853G>A;1015C>T]	NP_005934.2:p.[Glu285Lys;Arg339Trp]
NR_033233.1:n.[860G>A;1022C>T]
XM_011514632.1:c.[853G>A;1015C>T]	XP_011512934.1:p.[Glu285Lys;Arg339Trp]
XM_011514633.1:c.[853G>A;1015C>T]	XP_011512935.1:p.[Glu285Lys;Arg339Trp]
XM_011514634.1:c.[592G>A;754C>T]	XP_011512936.1:p.[Glu198Lys;Arg252Trp]
XM_011514635.1:c.[853G>A;1015C>T]	XP_011512937.1:p.[Glu285Lys;Arg339Trp]
XR_926225.1:n.[898G>A;1060C>T]
NM_001358529.1:c.[853G>A;1015C>T]	NP_001345458.1:p.[Glu285Lys;Arg339Trp]
NM_001358530.1:c.[853G>A;1015C>T]	NP_001345459.1:p.[Glu285Lys;Arg339Trp]
NM_001358531.1:c.[592G>A;754C>T]	NP_001345460.1:p.[Glu198Lys;Arg252Trp]
NM_001358533.1:c.[592G>A;754C>T]	NP_001345462.1:p.[Glu198Lys;Arg252Trp]
NM_001358534.1:c.[592G>A;754C>T]	NP_001345463.1:p.[Glu198Lys;Arg252Trp]
NM_001358530.2:c.[853G>A;1015C>T] MANE Select	NP_001345459.1:p.[Glu285Lys;Arg339Trp]
NM_001075098.4:c.[853G>A;1015C>T]	NP_001068566.1:p.[Glu285Lys;Arg339Trp]
NM_001358529.2:c.[853G>A;1015C>T]	NP_001345458.1:p.[Glu285Lys;Arg339Trp]
NM_001358531.2:c.[592G>A;754C>T]	NP_001345460.1:p.[Glu198Lys;Arg252Trp]
NM_001358533.2:c.[592G>A;754C>T]	NP_001345462.1:p.[Glu198Lys;Arg252Trp]
NR_033233.2:n.[771G>A;933C>T]
NM_001358534.2:c.[592G>A;754C>T]	NP_001345463.1:p.[Glu198Lys;Arg252Trp]
NM_005943.6:c.[853G>A;1015C>T]	NP_005934.2:p.[Glu285Lys;Arg339Trp]