Canonical Allele Identifier: CA364041946
Community Standard Title: NM_001358530.2(MOCS1):c.1103-1G>A
Gene: MOCS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.39909103C>T , CM000668.2:g.39909103C>T GRCh38
NC_000006.11:g.39876879C>T , CM000668.1:g.39876879C>T GRCh37
NC_000006.10:g.39984857C>T NCBI36
NG_009297.1:g.30376G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001358530.2:c.1103-1G>A MANE Select NP_001345459.1:n.1103-1G>A
ENST00000340692.10:c.1103-1G>A MANE Select ENSP00000344794.5:n.1103-1G>A
NM_001075098.3:c.1103-1G>A NP_001068566.1:n.1103-1G>A
NM_001075098.4:c.1103-1G>A NP_001068566.1:n.1103-1G>A
NM_001358529.1:c.1102+732G>A NP_001345458.1:n.1102+732G>A
NM_001358529.2:c.1102+732G>A NP_001345458.1:n.1102+732G>A
NM_001358530.1:c.1103-1G>A NP_001345459.1:n.1103-1G>A
NM_001358531.1:c.842-1G>A NP_001345460.1:n.842-1G>A
NM_001358531.2:c.842-1G>A NP_001345460.1:n.842-1G>A
NM_001358533.1:c.842-1G>A NP_001345462.1:n.842-1G>A
NM_001358533.2:c.842-1G>A NP_001345462.1:n.842-1G>A
NM_001358534.1:c.842-1G>A NP_001345463.1:n.842-1G>A
NM_001358534.2:c.842-1G>A NP_001345463.1:n.842-1G>A
NM_005943.5:c.1103-1G>A NP_005934.2:n.1103-1G>A
NM_005943.6:c.1103-1G>A NP_005934.2:n.1103-1G>A
NR_033233.1:n.1109+732G>A
NR_033233.2:n.1020+732G>A
ENST00000340692.9:c.1103-1G>A ENSP00000344794.5:n.1103-1G>A
ENST00000373181.8:c.841+732G>A ENSP00000362277.4:n.841+732G>A
ENST00000373186.8:c.1103-1G>A ENSP00000362282.4:n.1103-1G>A
ENST00000373188.6:c.1103-1G>A ENSP00000362284.2:n.1103-1G>A
ENST00000373195.7:c.841+732G>A ENSP00000362291.3:n.841+732G>A
ENST00000425303.6:c.1103-1G>A ENSP00000416478.2:n.1103-1G>A
ENST00000432280.2:c.1016-1G>A ENSP00000410809.2:n.1016-1G>A
ENST00000645522.1:n.1241-1G>A
XM_011514632.1:c.1103-1G>A XP_011512934.1:n.1103-1G>A
XM_011514633.1:c.1102+732G>A XP_011512935.1:n.1102+732G>A
XM_011514634.1:c.842-1G>A XP_011512936.1:n.842-1G>A
XM_011514635.1:c.1103-1G>A XP_011512937.1:n.1103-1G>A
XR_926225.1:n.1148-1G>A