Canonical Allele Identifier: CA364044030

Gene: MOCS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.39913410G>A , CM000668.2:g.39913410G>A	GRCh38
NC_000006.11:g.39881154G>A , CM000668.1:g.39881154G>A	GRCh37
NC_000006.10:g.39989132G>A	NCBI36
NG_009297.1:g.26101C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001358530.2:c.664C>T MANE Select	NP_001345459.1:p.Arg222Ter
ENST00000340692.10:c.664C>T MANE Select	ENSP00000344794.5:p.Arg222Ter
NM_001075098.3:c.664C>T	NP_001068566.1:p.Arg222Ter
NM_001075098.4:c.664C>T	NP_001068566.1:p.Arg222Ter
NM_001358529.1:c.664C>T	NP_001345458.1:p.Arg222Ter
NM_001358529.2:c.664C>T	NP_001345458.1:p.Arg222Ter
NM_001358530.1:c.664C>T	NP_001345459.1:p.Arg222Ter
NM_001358531.1:c.403C>T	NP_001345460.1:p.Arg135Ter
NM_001358531.2:c.403C>T	NP_001345460.1:p.Arg135Ter
NM_001358533.1:c.403C>T	NP_001345462.1:p.Arg135Ter
NM_001358533.2:c.403C>T	NP_001345462.1:p.Arg135Ter
NM_001358534.1:c.403C>T	NP_001345463.1:p.Arg135Ter
NM_001358534.2:c.403C>T	NP_001345463.1:p.Arg135Ter
NM_005943.5:c.664C>T	NP_005934.2:p.Arg222Ter
NM_005943.6:c.664C>T	NP_005934.2:p.Arg222Ter
NR_033233.1:n.671C>T
NR_033233.2:n.582C>T
ENST00000340692.9:c.664C>T	ENSP00000344794.5:p.Arg222Ter
ENST00000373181.8:c.403C>T	ENSP00000362277.4:p.Arg135Ter
ENST00000373186.8:c.664C>T	ENSP00000362282.4:p.Arg222Ter
ENST00000373188.6:c.664C>T	ENSP00000362284.2:p.Arg222Ter
ENST00000373195.7:c.403C>T	ENSP00000362291.3:p.Arg135Ter
ENST00000425303.6:c.664C>T	ENSP00000416478.2:p.Arg222Ter
ENST00000432280.2:c.577C>T	ENSP00000410809.2:p.Arg193Ter
ENST00000645522.1:n.802C>T
XM_011514632.1:c.664C>T	XP_011512934.1:p.Arg222Ter
XM_011514633.1:c.664C>T	XP_011512935.1:p.Arg222Ter
XM_011514634.1:c.403C>T	XP_011512936.1:p.Arg135Ter
XM_011514635.1:c.664C>T	XP_011512937.1:p.Arg222Ter
XR_926225.1:n.709C>T