Canonical Allele Identifier: CA053174

Gene: MOCS1

Linked Data

• ClinVar Variation Id: 242558
• ClinVar RCV Id: RCV000415797 ; RCV000714706 ; RCV001354513 ; RCV001252317 ; RCV002518405 ; RCV003907901
• dbSNP Id: rs140243105
• ExAC: 6:39880653 C / T
• gnomAD v2: 6-39880653-C-T
• gnomAD v3: 6-39912909-C-T
• gnomAD v4: 6-39912909-C-T
• MyVariant Identifiers: chr6:g.39880653C>T (hg19) ; chr6:g.39912909C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.39912909C>T , CM000668.2:g.39912909C>T	GRCh38
NC_000006.11:g.39880653C>T , CM000668.1:g.39880653C>T	GRCh37
NC_000006.10:g.39988631C>T	NCBI36
NG_009297.1:g.26602G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340692.10:c.853G>A MANE Select	ENSP00000344794.5:p.Glu285Lys
ENST00000645522.1:n.991G>A
ENST00000340692.9:c.853G>A	ENSP00000344794.5:p.Glu285Lys
ENST00000373181.8:c.592G>A	ENSP00000362277.4:p.Glu198Lys
ENST00000373186.8:c.853G>A	ENSP00000362282.4:p.Glu285Lys
ENST00000373188.6:c.853G>A	ENSP00000362284.2:p.Glu285Lys
ENST00000373195.7:c.592G>A	ENSP00000362291.3:p.Glu198Lys
ENST00000425303.6:c.853G>A	ENSP00000416478.2:p.Glu285Lys
ENST00000432280.2:c.766G>A	ENSP00000410809.2:p.Glu256Lys
NM_001075098.3:c.853G>A	NP_001068566.1:p.Glu285Lys
NM_005943.5:c.853G>A	NP_005934.2:p.Glu285Lys
NR_033233.1:n.860G>A
XM_011514632.1:c.853G>A	XP_011512934.1:p.Glu285Lys
XM_011514633.1:c.853G>A	XP_011512935.1:p.Glu285Lys
XM_011514634.1:c.592G>A	XP_011512936.1:p.Glu198Lys
XM_011514635.1:c.853G>A	XP_011512937.1:p.Glu285Lys
XR_926225.1:n.898G>A
NM_001358529.1:c.853G>A	NP_001345458.1:p.Glu285Lys
NM_001358530.1:c.853G>A	NP_001345459.1:p.Glu285Lys
NM_001358531.1:c.592G>A	NP_001345460.1:p.Glu198Lys
NM_001358533.1:c.592G>A	NP_001345462.1:p.Glu198Lys
NM_001358534.1:c.592G>A	NP_001345463.1:p.Glu198Lys
NM_001358530.2:c.853G>A MANE Select	NP_001345459.1:p.Glu285Lys
NM_001075098.4:c.853G>A	NP_001068566.1:p.Glu285Lys
NM_001358529.2:c.853G>A	NP_001345458.1:p.Glu285Lys
NM_001358531.2:c.592G>A	NP_001345460.1:p.Glu198Lys
NM_001358533.2:c.592G>A	NP_001345462.1:p.Glu198Lys
NR_033233.2:n.771G>A
NM_001358534.2:c.592G>A	NP_001345463.1:p.Glu198Lys
NM_005943.6:c.853G>A	NP_005934.2:p.Glu285Lys