Canonical Allele Identifier: CA3796244

Gene: MOCS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.39916056A>G , CM000668.2:g.39916056A>G	GRCh38
NC_000006.11:g.39883800A>G , CM000668.1:g.39883800A>G	GRCh37
NC_000006.10:g.39991778A>G	NCBI36
NG_009297.1:g.23455T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001358530.2:c.583+12T>C MANE Select	NP_001345459.1:n.583+12T>C
ENST00000340692.10:c.583+12T>C MANE Select	ENSP00000344794.5:n.583+12T>C
NM_001075098.3:c.583+12T>C	NP_001068566.1:n.583+12T>C
NM_001075098.4:c.583+12T>C	NP_001068566.1:n.583+12T>C
NM_001358529.1:c.583+12T>C	NP_001345458.1:n.583+12T>C
NM_001358529.2:c.583+12T>C	NP_001345458.1:n.583+12T>C
NM_001358530.1:c.583+12T>C	NP_001345459.1:n.583+12T>C
NM_001358531.1:c.322+12T>C	NP_001345460.1:n.322+12T>C
NM_001358531.2:c.322+12T>C	NP_001345460.1:n.322+12T>C
NM_001358533.1:c.322+12T>C	NP_001345462.1:n.322+12T>C
NM_001358533.2:c.322+12T>C	NP_001345462.1:n.322+12T>C
NM_001358534.1:c.322+12T>C	NP_001345463.1:n.322+12T>C
NM_001358534.2:c.322+12T>C	NP_001345463.1:n.322+12T>C
NM_005943.5:c.583+12T>C	NP_005934.2:n.583+12T>C
NM_005943.6:c.583+12T>C	NP_005934.2:n.583+12T>C
NR_033233.1:n.590+12T>C
NR_033233.2:n.501+12T>C
ENST00000340692.9:c.583+12T>C	ENSP00000344794.5:n.583+12T>C
ENST00000373181.8:c.322+12T>C	ENSP00000362277.4:n.322+12T>C
ENST00000373186.8:c.583+12T>C	ENSP00000362282.4:n.583+12T>C
ENST00000373188.6:c.583+12T>C	ENSP00000362284.2:n.583+12T>C
ENST00000373195.7:c.322+12T>C	ENSP00000362291.3:n.322+12T>C
ENST00000425303.6:c.583+12T>C	ENSP00000416478.2:n.583+12T>C
ENST00000432280.2:c.496+12T>C	ENSP00000410809.2:n.496+12T>C
ENST00000473742.1:n.463+12T>C
ENST00000645522.1:n.721+12T>C
XM_011514632.1:c.583+12T>C	XP_011512934.1:n.583+12T>C
XM_011514633.1:c.583+12T>C	XP_011512935.1:n.583+12T>C
XM_011514634.1:c.322+12T>C	XP_011512936.1:n.322+12T>C
XM_011514635.1:c.583+12T>C	XP_011512937.1:n.583+12T>C
XR_926225.1:n.628+12T>C