Canonical Allele Identifier: CA364044213

Gene: MOCS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.39913818C>A , CM000668.2:g.39913818C>A	GRCh38
NC_000006.11:g.39881562C>A , CM000668.1:g.39881562C>A	GRCh37
NC_000006.10:g.39989540C>A	NCBI36
NG_009297.1:g.25693G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001358530.2:c.601G>T MANE Select	NP_001345459.1:p.Glu201Ter
ENST00000340692.10:c.601G>T MANE Select	ENSP00000344794.5:p.Glu201Ter
NM_001075098.3:c.601G>T	NP_001068566.1:p.Glu201Ter
NM_001075098.4:c.601G>T	NP_001068566.1:p.Glu201Ter
NM_001358529.1:c.601G>T	NP_001345458.1:p.Glu201Ter
NM_001358529.2:c.601G>T	NP_001345458.1:p.Glu201Ter
NM_001358530.1:c.601G>T	NP_001345459.1:p.Glu201Ter
NM_001358531.1:c.340G>T	NP_001345460.1:p.Glu114Ter
NM_001358531.2:c.340G>T	NP_001345460.1:p.Glu114Ter
NM_001358533.1:c.340G>T	NP_001345462.1:p.Glu114Ter
NM_001358533.2:c.340G>T	NP_001345462.1:p.Glu114Ter
NM_001358534.1:c.340G>T	NP_001345463.1:p.Glu114Ter
NM_001358534.2:c.340G>T	NP_001345463.1:p.Glu114Ter
NM_005943.5:c.601G>T	NP_005934.2:p.Glu201Ter
NM_005943.6:c.601G>T	NP_005934.2:p.Glu201Ter
NR_033233.1:n.608G>T
NR_033233.2:n.519G>T
ENST00000340692.9:c.601G>T	ENSP00000344794.5:p.Glu201Ter
ENST00000373181.8:c.340G>T	ENSP00000362277.4:p.Glu114Ter
ENST00000373186.8:c.601G>T	ENSP00000362282.4:p.Glu201Ter
ENST00000373188.6:c.601G>T	ENSP00000362284.2:p.Glu201Ter
ENST00000373195.7:c.340G>T	ENSP00000362291.3:p.Glu114Ter
ENST00000425303.6:c.601G>T	ENSP00000416478.2:p.Glu201Ter
ENST00000432280.2:c.514G>T	ENSP00000410809.2:p.Glu172Ter
ENST00000473742.1:n.481G>T
ENST00000645522.1:n.739G>T
XM_011514632.1:c.601G>T	XP_011512934.1:p.Glu201Ter
XM_011514633.1:c.601G>T	XP_011512935.1:p.Glu201Ter
XM_011514634.1:c.340G>T	XP_011512936.1:p.Glu114Ter
XM_011514635.1:c.601G>T	XP_011512937.1:p.Glu201Ter
XR_926225.1:n.646G>T