Canonical Allele Identifier: CA2678649360
Gene: MOCS1 HGNC NCBI

Linked Data

gnomAD v4: 6-39912199-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.39912199C>A , CM000668.2:g.39912199C>A GRCh38
NC_000006.11:g.39879943C>A , CM000668.1:g.39879943C>A GRCh37
NC_000006.10:g.39987921C>A NCBI36
NG_009297.1:g.27312G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000340692.10:c.981+65G>T MANE Select ENSP00000344794.5:n.981+65G>T
ENST00000645522.1:n.1119+65G>T
ENST00000340692.9:c.981+65G>T ENSP00000344794.5:n.981+65G>T
ENST00000373181.8:c.720+65G>T ENSP00000362277.4:n.720+65G>T
ENST00000373186.8:c.981+65G>T ENSP00000362282.4:n.981+65G>T
ENST00000373188.6:c.981+65G>T ENSP00000362284.2:n.981+65G>T
ENST00000373195.7:c.720+65G>T ENSP00000362291.3:n.720+65G>T
ENST00000425303.6:c.981+65G>T ENSP00000416478.2:n.981+65G>T
ENST00000432280.2:c.894+65G>T ENSP00000410809.2:n.894+65G>T
NM_001075098.3:c.981+65G>T NP_001068566.1:n.981+65G>T
NM_005943.5:c.981+65G>T NP_005934.2:n.981+65G>T
NR_033233.1:n.988+65G>T
XM_011514632.1:c.981+65G>T XP_011512934.1:n.981+65G>T
XM_011514633.1:c.981+65G>T XP_011512935.1:n.981+65G>T
XM_011514634.1:c.720+65G>T XP_011512936.1:n.720+65G>T
XM_011514635.1:c.981+65G>T XP_011512937.1:n.981+65G>T
XR_926225.1:n.1026+65G>T
NM_001358529.1:c.981+65G>T NP_001345458.1:n.981+65G>T
NM_001358530.1:c.981+65G>T NP_001345459.1:n.981+65G>T
NM_001358531.1:c.720+65G>T NP_001345460.1:n.720+65G>T
NM_001358533.1:c.720+65G>T NP_001345462.1:n.720+65G>T
NM_001358534.1:c.720+65G>T NP_001345463.1:n.720+65G>T
NM_001358530.2:c.981+65G>T MANE Select NP_001345459.1:n.981+65G>T
NM_001075098.4:c.981+65G>T NP_001068566.1:n.981+65G>T
NM_001358529.2:c.981+65G>T NP_001345458.1:n.981+65G>T
NM_001358531.2:c.720+65G>T NP_001345460.1:n.720+65G>T
NM_001358533.2:c.720+65G>T NP_001345462.1:n.720+65G>T
NR_033233.2:n.899+65G>T
NM_001358534.2:c.720+65G>T NP_001345463.1:n.720+65G>T
NM_005943.6:c.981+65G>T NP_005934.2:n.981+65G>T