Canonical Allele Identifier: CA3796436

Gene: MOCS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.39927461A>C , CM000668.2:g.39927461A>C	GRCh38
NC_000006.11:g.39895200A>C , CM000668.1:g.39895200A>C	GRCh37
NC_000006.10:g.40003178A>C	NCBI36
NG_009297.1:g.12055T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001358530.2:c.124-6T>G MANE Select	NP_001345459.1:n.124-6T>G
ENST00000340692.10:c.124-6T>G MANE Select	ENSP00000344794.5:n.124-6T>G
NM_001075098.3:c.124-6T>G	NP_001068566.1:n.124-6T>G
NM_001075098.4:c.124-6T>G	NP_001068566.1:n.124-6T>G
NM_001358529.1:c.124-6T>G	NP_001345458.1:n.124-6T>G
NM_001358529.2:c.124-6T>G	NP_001345458.1:n.124-6T>G
NM_001358530.1:c.124-6T>G	NP_001345459.1:n.124-6T>G
NM_001358531.1:c.-11-1616T>G	NP_001345460.1:n.-11-1616T>G
NM_001358531.2:c.-11-1616T>G	NP_001345460.1:n.-11-1616T>G
NM_001358533.1:c.-11-1616T>G	NP_001345462.1:n.-11-1616T>G
NM_001358533.2:c.-11-1616T>G	NP_001345462.1:n.-11-1616T>G
NM_001358534.1:c.-138-6T>G	NP_001345463.1:n.-138-6T>G
NM_001358534.2:c.-138-6T>G	NP_001345463.1:n.-138-6T>G
NM_005943.5:c.118T>G	NP_005934.2:p.Ser40Ala
NM_005943.6:c.118T>G	NP_005934.2:p.Ser40Ala
NR_033233.1:n.258-1616T>G
NR_033233.2:n.169-1616T>G
ENST00000340692.9:c.124-6T>G	ENSP00000344794.5:n.124-6T>G
ENST00000373181.8:c.-138-6T>G	ENSP00000362277.4:n.-138-6T>G
ENST00000373186.8:c.118T>G	ENSP00000362282.4:p.Ser40Ala
ENST00000373188.6:c.124-6T>G	ENSP00000362284.2:n.124-6T>G
ENST00000373195.7:c.-11-1616T>G	ENSP00000362291.3:n.-11-1616T>G
ENST00000425303.6:c.118T>G	ENSP00000416478.2:p.Ser40Ala
ENST00000432280.2:c.37-6T>G	ENSP00000410809.2:n.37-6T>G
ENST00000473742.1:n.131-1616T>G
ENST00000487924.1:c.124-6T>G	ENSP00000418315.1:n.124-6T>G
ENST00000645522.1:n.256T>G
XM_011514632.1:c.124-6T>G	XP_011512934.1:n.124-6T>G
XM_011514633.1:c.124-6T>G	XP_011512935.1:n.124-6T>G
XM_011514634.1:c.-11-1616T>G	XP_011512936.1:n.-11-1616T>G
XM_011514635.1:c.124-6T>G	XP_011512937.1:n.124-6T>G
XR_926225.1:n.169-6T>G