Canonical Allele Identifier: CA117958
Gene: MOCS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 6121
ClinVar RCV Id: RCV000006495
dbSNP Id: rs104893970
gnomAD v2: 6-39895101-G-A
gnomAD v3: 6-39927362-G-A
gnomAD v4: 6-39927362-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.39927362G>A , CM000668.2:g.39927362G>A GRCh38
NC_000006.11:g.39895101G>A , CM000668.1:g.39895101G>A GRCh37
NC_000006.10:g.40003079G>A NCBI36
NG_009297.1:g.12154C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000340692.10:c.217C>T MANE Select ENSP00000344794.5:p.Arg73Trp
ENST00000645522.1:n.355C>T
ENST00000340692.9:c.217C>T ENSP00000344794.5:p.Arg73Trp
ENST00000373181.8:c.-45C>T ENSP00000362277.4:n.-45C>T
ENST00000373186.8:c.217C>T ENSP00000362282.4:p.Arg73Trp
ENST00000373188.6:c.217C>T ENSP00000362284.2:p.Arg73Trp
ENST00000373195.7:c.-11-1517C>T ENSP00000362291.3:n.-11-1517C>T
ENST00000425303.6:c.217C>T ENSP00000416478.2:p.Arg73Trp
ENST00000432280.2:c.130C>T ENSP00000410809.2:p.Arg44Trp
ENST00000473742.1:n.131-1517C>T
ENST00000487924.1:c.217C>T ENSP00000418315.1:p.Arg73Trp
NM_001075098.3:c.217C>T NP_001068566.1:p.Arg73Trp
NM_005943.5:c.217C>T NP_005934.2:p.Arg73Trp
NR_033233.1:n.258-1517C>T
XM_011514632.1:c.217C>T XP_011512934.1:p.Arg73Trp
XM_011514633.1:c.217C>T XP_011512935.1:p.Arg73Trp
XM_011514634.1:c.-11-1517C>T XP_011512936.1:n.-11-1517C>T
XM_011514635.1:c.217C>T XP_011512937.1:p.Arg73Trp
XR_926225.1:n.262C>T
NM_001358529.1:c.217C>T NP_001345458.1:p.Arg73Trp
NM_001358530.1:c.217C>T NP_001345459.1:p.Arg73Trp
NM_001358531.1:c.-11-1517C>T NP_001345460.1:n.-11-1517C>T
NM_001358533.1:c.-11-1517C>T NP_001345462.1:n.-11-1517C>T
NM_001358534.1:c.-45C>T NP_001345463.1:n.-45C>T
NM_001358530.2:c.217C>T MANE Select NP_001345459.1:p.Arg73Trp
NM_001075098.4:c.217C>T NP_001068566.1:p.Arg73Trp
NM_001358529.2:c.217C>T NP_001345458.1:p.Arg73Trp
NM_001358531.2:c.-11-1517C>T NP_001345460.1:n.-11-1517C>T
NM_001358533.2:c.-11-1517C>T NP_001345462.1:n.-11-1517C>T
NR_033233.2:n.169-1517C>T
NM_001358534.2:c.-45C>T NP_001345463.1:n.-45C>T
NM_005943.6:c.217C>T NP_005934.2:p.Arg73Trp