Canonical Allele Identifier: CA450206058

Gene: MOCS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.39913780A>C , CM000668.2:g.39913780A>C	GRCh38
NC_000006.11:g.39881524A>C , CM000668.1:g.39881524A>C	GRCh37
NC_000006.10:g.39989502A>C	NCBI36
NG_009297.1:g.25731T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001358530.2:c.639T>G MANE Select	NP_001345459.1:p.Pro213=
ENST00000340692.10:c.639T>G MANE Select	ENSP00000344794.5:p.Pro213=
NM_001075098.3:c.639T>G	NP_001068566.1:p.Pro213=
NM_001075098.4:c.639T>G	NP_001068566.1:p.Pro213=
NM_001358529.1:c.639T>G	NP_001345458.1:p.Pro213=
NM_001358529.2:c.639T>G	NP_001345458.1:p.Pro213=
NM_001358530.1:c.639T>G	NP_001345459.1:p.Pro213=
NM_001358531.1:c.378T>G	NP_001345460.1:p.Pro126=
NM_001358531.2:c.378T>G	NP_001345460.1:p.Pro126=
NM_001358533.1:c.378T>G	NP_001345462.1:p.Pro126=
NM_001358533.2:c.378T>G	NP_001345462.1:p.Pro126=
NM_001358534.1:c.378T>G	NP_001345463.1:p.Pro126=
NM_001358534.2:c.378T>G	NP_001345463.1:p.Pro126=
NM_005943.5:c.639T>G	NP_005934.2:p.Pro213=
NM_005943.6:c.639T>G	NP_005934.2:p.Pro213=
NR_033233.1:n.646T>G
NR_033233.2:n.557T>G
ENST00000340692.9:c.639T>G	ENSP00000344794.5:p.Pro213=
ENST00000373181.8:c.378T>G	ENSP00000362277.4:p.Pro126=
ENST00000373186.8:c.639T>G	ENSP00000362282.4:p.Pro213=
ENST00000373188.6:c.639T>G	ENSP00000362284.2:p.Pro213=
ENST00000373195.7:c.378T>G	ENSP00000362291.3:p.Pro126=
ENST00000425303.6:c.639T>G	ENSP00000416478.2:p.Pro213=
ENST00000432280.2:c.552T>G	ENSP00000410809.2:p.Pro184=
ENST00000473742.1:n.519T>G
ENST00000645522.1:n.777T>G
XM_011514632.1:c.639T>G	XP_011512934.1:p.Pro213=
XM_011514633.1:c.639T>G	XP_011512935.1:p.Pro213=
XM_011514634.1:c.378T>G	XP_011512936.1:p.Pro126=
XM_011514635.1:c.639T>G	XP_011512937.1:p.Pro213=
XR_926225.1:n.684T>G