Canonical Allele Identifier: CA364043012

Gene: MOCS1

Linked Data

• dbSNP Id: rs2149402868
• MyVariant Identifiers: chr6:g.39880042T>G (hg19) ; chr6:g.39912298T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.39912298T>G , CM000668.2:g.39912298T>G	GRCh38
NC_000006.11:g.39880042T>G , CM000668.1:g.39880042T>G	GRCh37
NC_000006.10:g.39988020T>G	NCBI36
NG_009297.1:g.27213A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000340692.10:c.947A>C MANE Select	ENSP00000344794.5:p.Asn316Thr
ENST00000645522.1:n.1085A>C
ENST00000340692.9:c.947A>C	ENSP00000344794.5:p.Asn316Thr
ENST00000373181.8:c.686A>C	ENSP00000362277.4:p.Asn229Thr
ENST00000373186.8:c.947A>C	ENSP00000362282.4:p.Asn316Thr
ENST00000373188.6:c.947A>C	ENSP00000362284.2:p.Asn316Thr
ENST00000373195.7:c.686A>C	ENSP00000362291.3:p.Asn229Thr
ENST00000425303.6:c.947A>C	ENSP00000416478.2:p.Asn316Thr
ENST00000432280.2:c.860A>C	ENSP00000410809.2:p.Asn287Thr
NM_001075098.3:c.947A>C	NP_001068566.1:p.Asn316Thr
NM_005943.5:c.947A>C	NP_005934.2:p.Asn316Thr
NR_033233.1:n.954A>C
XM_011514632.1:c.947A>C	XP_011512934.1:p.Asn316Thr
XM_011514633.1:c.947A>C	XP_011512935.1:p.Asn316Thr
XM_011514634.1:c.686A>C	XP_011512936.1:p.Asn229Thr
XM_011514635.1:c.947A>C	XP_011512937.1:p.Asn316Thr
XR_926225.1:n.992A>C
NM_001358529.1:c.947A>C	NP_001345458.1:p.Asn316Thr
NM_001358530.1:c.947A>C	NP_001345459.1:p.Asn316Thr
NM_001358531.1:c.686A>C	NP_001345460.1:p.Asn229Thr
NM_001358533.1:c.686A>C	NP_001345462.1:p.Asn229Thr
NM_001358534.1:c.686A>C	NP_001345463.1:p.Asn229Thr
NM_001358530.2:c.947A>C MANE Select	NP_001345459.1:p.Asn316Thr
NM_001075098.4:c.947A>C	NP_001068566.1:p.Asn316Thr
NM_001358529.2:c.947A>C	NP_001345458.1:p.Asn316Thr
NM_001358531.2:c.686A>C	NP_001345460.1:p.Asn229Thr
NM_001358533.2:c.686A>C	NP_001345462.1:p.Asn229Thr
NR_033233.2:n.865A>C
NM_001358534.2:c.686A>C	NP_001345463.1:p.Asn229Thr
NM_005943.6:c.947A>C	NP_005934.2:p.Asn316Thr