Canonical Allele Identifier: CA364042939
Gene: MOCS1 HGNC NCBI

Linked Data

dbSNP Id: rs1187685038
gnomAD v2: 6-39880018-C-T
gnomAD v4: 6-39912274-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.39912274C>T , CM000668.2:g.39912274C>T GRCh38
NC_000006.11:g.39880018C>T , CM000668.1:g.39880018C>T GRCh37
NC_000006.10:g.39987996C>T NCBI36
NG_009297.1:g.27237G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000340692.10:c.971G>A MANE Select ENSP00000344794.5:p.Gly324Glu
ENST00000645522.1:n.1109G>A
ENST00000340692.9:c.971G>A ENSP00000344794.5:p.Gly324Glu
ENST00000373181.8:c.710G>A ENSP00000362277.4:p.Gly237Glu
ENST00000373186.8:c.971G>A ENSP00000362282.4:p.Gly324Glu
ENST00000373188.6:c.971G>A ENSP00000362284.2:p.Gly324Glu
ENST00000373195.7:c.710G>A ENSP00000362291.3:p.Gly237Glu
ENST00000425303.6:c.971G>A ENSP00000416478.2:p.Gly324Glu
ENST00000432280.2:c.884G>A ENSP00000410809.2:p.Gly295Glu
NM_001075098.3:c.971G>A NP_001068566.1:p.Gly324Glu
NM_005943.5:c.971G>A NP_005934.2:p.Gly324Glu
NR_033233.1:n.978G>A
XM_011514632.1:c.971G>A XP_011512934.1:p.Gly324Glu
XM_011514633.1:c.971G>A XP_011512935.1:p.Gly324Glu
XM_011514634.1:c.710G>A XP_011512936.1:p.Gly237Glu
XM_011514635.1:c.971G>A XP_011512937.1:p.Gly324Glu
XR_926225.1:n.1016G>A
NM_001358529.1:c.971G>A NP_001345458.1:p.Gly324Glu
NM_001358530.1:c.971G>A NP_001345459.1:p.Gly324Glu
NM_001358531.1:c.710G>A NP_001345460.1:p.Gly237Glu
NM_001358533.1:c.710G>A NP_001345462.1:p.Gly237Glu
NM_001358534.1:c.710G>A NP_001345463.1:p.Gly237Glu
NM_001358530.2:c.971G>A MANE Select NP_001345459.1:p.Gly324Glu
NM_001075098.4:c.971G>A NP_001068566.1:p.Gly324Glu
NM_001358529.2:c.971G>A NP_001345458.1:p.Gly324Glu
NM_001358531.2:c.710G>A NP_001345460.1:p.Gly237Glu
NM_001358533.2:c.710G>A NP_001345462.1:p.Gly237Glu
NR_033233.2:n.889G>A
NM_001358534.2:c.710G>A NP_001345463.1:p.Gly237Glu
NM_005943.6:c.971G>A NP_005934.2:p.Gly324Glu