Canonical Allele Identifier: CA364042999

Gene: MOCS1

Linked Data

• MyVariant Identifiers: chr6:g.39880039C>G (hg19) ; chr6:g.39912295C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000340692.10:c.950G>C MANE Select	ENSP00000344794.5:p.Arg317Pro
ENST00000645522.1:n.1088G>C
ENST00000340692.9:c.950G>C	ENSP00000344794.5:p.Arg317Pro
ENST00000373181.8:c.689G>C	ENSP00000362277.4:p.Arg230Pro
ENST00000373186.8:c.950G>C	ENSP00000362282.4:p.Arg317Pro
ENST00000373188.6:c.950G>C	ENSP00000362284.2:p.Arg317Pro
ENST00000373195.7:c.689G>C	ENSP00000362291.3:p.Arg230Pro
ENST00000425303.6:c.950G>C	ENSP00000416478.2:p.Arg317Pro
ENST00000432280.2:c.863G>C	ENSP00000410809.2:p.Arg288Pro
NM_001075098.3:c.950G>C	NP_001068566.1:p.Arg317Pro
NM_005943.5:c.950G>C	NP_005934.2:p.Arg317Pro
NR_033233.1:n.957G>C
XM_011514632.1:c.950G>C	XP_011512934.1:p.Arg317Pro
XM_011514633.1:c.950G>C	XP_011512935.1:p.Arg317Pro
XM_011514634.1:c.689G>C	XP_011512936.1:p.Arg230Pro
XM_011514635.1:c.950G>C	XP_011512937.1:p.Arg317Pro
XR_926225.1:n.995G>C
NM_001358529.1:c.950G>C	NP_001345458.1:p.Arg317Pro
NM_001358530.1:c.950G>C	NP_001345459.1:p.Arg317Pro
NM_001358531.1:c.689G>C	NP_001345460.1:p.Arg230Pro
NM_001358533.1:c.689G>C	NP_001345462.1:p.Arg230Pro
NM_001358534.1:c.689G>C	NP_001345463.1:p.Arg230Pro
NM_001358530.2:c.950G>C MANE Select	NP_001345459.1:p.Arg317Pro
NM_001075098.4:c.950G>C	NP_001068566.1:p.Arg317Pro
NM_001358529.2:c.950G>C	NP_001345458.1:p.Arg317Pro
NM_001358531.2:c.689G>C	NP_001345460.1:p.Arg230Pro
NM_001358533.2:c.689G>C	NP_001345462.1:p.Arg230Pro
NR_033233.2:n.868G>C
NM_001358534.2:c.689G>C	NP_001345463.1:p.Arg230Pro
NM_005943.6:c.950G>C	NP_005934.2:p.Arg317Pro