Canonical Allele Identifier: CA3796323

Gene: MOCS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.39925719C>T , CM000668.2:g.39925719C>T	GRCh38
NC_000006.11:g.39893463C>T , CM000668.1:g.39893463C>T	GRCh37
NC_000006.10:g.40001441C>T	NCBI36
NG_009297.1:g.13792G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001358530.2:c.377G>A MANE Select	NP_001345459.1:p.Gly126Asp
ENST00000340692.10:c.377G>A MANE Select	ENSP00000344794.5:p.Gly126Asp
NM_001075098.3:c.377G>A	NP_001068566.1:p.Gly126Asp
NM_001075098.4:c.377G>A	NP_001068566.1:p.Gly126Asp
NM_001358529.1:c.377G>A	NP_001345458.1:p.Gly126Asp
NM_001358529.2:c.377G>A	NP_001345458.1:p.Gly126Asp
NM_001358530.1:c.377G>A	NP_001345459.1:p.Gly126Asp
NM_001358531.1:c.116G>A	NP_001345460.1:p.Gly39Asp
NM_001358531.2:c.116G>A	NP_001345460.1:p.Gly39Asp
NM_001358533.1:c.116G>A	NP_001345462.1:p.Gly39Asp
NM_001358533.2:c.116G>A	NP_001345462.1:p.Gly39Asp
NM_001358534.1:c.116G>A	NP_001345463.1:p.Gly39Asp
NM_001358534.2:c.116G>A	NP_001345463.1:p.Gly39Asp
NM_005943.5:c.377G>A	NP_005934.2:p.Gly126Asp
NM_005943.6:c.377G>A	NP_005934.2:p.Gly126Asp
NR_033233.1:n.384G>A
NR_033233.2:n.295G>A
ENST00000340692.9:c.377G>A	ENSP00000344794.5:p.Gly126Asp
ENST00000373181.8:c.116G>A	ENSP00000362277.4:p.Gly39Asp
ENST00000373186.8:c.377G>A	ENSP00000362282.4:p.Gly126Asp
ENST00000373188.6:c.377G>A	ENSP00000362284.2:p.Gly126Asp
ENST00000373195.7:c.116G>A	ENSP00000362291.3:p.Gly39Asp
ENST00000425303.6:c.377G>A	ENSP00000416478.2:p.Gly126Asp
ENST00000432280.2:c.290G>A	ENSP00000410809.2:p.Gly97Asp
ENST00000473742.1:n.257G>A
ENST00000487924.1:c.*225G>A	ENSP00000418315.1:n.*225G>A
ENST00000645522.1:n.515G>A
XM_011514632.1:c.377G>A	XP_011512934.1:p.Gly126Asp
XM_011514633.1:c.377G>A	XP_011512935.1:p.Gly126Asp
XM_011514634.1:c.116G>A	XP_011512936.1:p.Gly39Asp
XM_011514635.1:c.377G>A	XP_011512937.1:p.Gly126Asp
XR_926225.1:n.422G>A