Canonical Allele Identifier: CA3796106

Gene: MOCS1

Linked Data

• ClinVar Variation Id: 2162137
• ClinVar RCV Id: RCV003070088
• dbSNP Id: rs756158164
• ExAC: 6:39880039 C / T
• gnomAD v2: 6-39880039-C-T
• gnomAD v3: 6-39912295-C-T
• gnomAD v4: 6-39912295-C-T
• COSMIC: COSM1079058 ; COSM1079059
• MyVariant Identifiers: chr6:g.39880039C>T (hg19) ; chr6:g.39912295C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.39912295C>T , CM000668.2:g.39912295C>T	GRCh38
NC_000006.11:g.39880039C>T , CM000668.1:g.39880039C>T	GRCh37
NC_000006.10:g.39988017C>T	NCBI36
NG_009297.1:g.27216G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000340692.10:c.950G>A MANE Select	ENSP00000344794.5:p.Arg317His
ENST00000645522.1:n.1088G>A
ENST00000340692.9:c.950G>A	ENSP00000344794.5:p.Arg317His
ENST00000373181.8:c.689G>A	ENSP00000362277.4:p.Arg230His
ENST00000373186.8:c.950G>A	ENSP00000362282.4:p.Arg317His
ENST00000373188.6:c.950G>A	ENSP00000362284.2:p.Arg317His
ENST00000373195.7:c.689G>A	ENSP00000362291.3:p.Arg230His
ENST00000425303.6:c.950G>A	ENSP00000416478.2:p.Arg317His
ENST00000432280.2:c.863G>A	ENSP00000410809.2:p.Arg288His
NM_001075098.3:c.950G>A	NP_001068566.1:p.Arg317His
NM_005943.5:c.950G>A	NP_005934.2:p.Arg317His
NR_033233.1:n.957G>A
XM_011514632.1:c.950G>A	XP_011512934.1:p.Arg317His
XM_011514633.1:c.950G>A	XP_011512935.1:p.Arg317His
XM_011514634.1:c.689G>A	XP_011512936.1:p.Arg230His
XM_011514635.1:c.950G>A	XP_011512937.1:p.Arg317His
XR_926225.1:n.995G>A
NM_001358529.1:c.950G>A	NP_001345458.1:p.Arg317His
NM_001358530.1:c.950G>A	NP_001345459.1:p.Arg317His
NM_001358531.1:c.689G>A	NP_001345460.1:p.Arg230His
NM_001358533.1:c.689G>A	NP_001345462.1:p.Arg230His
NM_001358534.1:c.689G>A	NP_001345463.1:p.Arg230His
NM_001358530.2:c.950G>A MANE Select	NP_001345459.1:p.Arg317His
NM_001075098.4:c.950G>A	NP_001068566.1:p.Arg317His
NM_001358529.2:c.950G>A	NP_001345458.1:p.Arg317His
NM_001358531.2:c.689G>A	NP_001345460.1:p.Arg230His
NM_001358533.2:c.689G>A	NP_001345462.1:p.Arg230His
NR_033233.2:n.868G>A
NM_001358534.2:c.689G>A	NP_001345463.1:p.Arg230His
NM_005943.6:c.950G>A	NP_005934.2:p.Arg317His