Canonical Allele Identifier: CA3795952

Gene: MOCS1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.39906855G>A , CM000668.2:g.39906855G>A	GRCh38
NC_000006.11:g.39874631G>A , CM000668.1:g.39874631G>A	GRCh37
NC_000006.10:g.39982609G>A	NCBI36
NG_009297.1:g.32624C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340692.10:c.1413C>T MANE Select	ENSP00000344794.5:p.Ala471=
ENST00000645522.1:n.1566C>T
ENST00000340692.9:c.1413C>T	ENSP00000344794.5:p.Ala471=
ENST00000373181.8:c.842-2593C>T	ENSP00000362277.4:n.842-2593C>T
ENST00000373186.8:c.*270C>T	ENSP00000362282.4:n.*270C>T
ENST00000373188.6:c.*270C>T	ENSP00000362284.2:n.*270C>T
ENST00000373195.7:c.1104C>T	ENSP00000362291.3:p.Ala368=
ENST00000425303.6:c.1413C>T	ENSP00000416478.2:p.Ala471=
NM_001075098.3:c.*270C>T	NP_001068566.1:n.*270C>T
NM_005943.5:c.*270C>T	NP_005934.2:n.*270C>T
NR_033233.1:n.1372C>T
XM_011514632.1:c.1413C>T	XP_011512934.1:p.Ala471=
XM_011514633.1:c.1365C>T	XP_011512935.1:p.Ala455=
XM_011514634.1:c.1152C>T	XP_011512936.1:p.Ala384=
XM_011514635.1:c.1150+2200C>T	XP_011512937.1:n.1150+2200C>T
XR_926225.1:n.1458C>T
NM_001358529.1:c.1365C>T	NP_001345458.1:p.Ala455=
NM_001358530.1:c.1413C>T	NP_001345459.1:p.Ala471=
NM_001358531.1:c.1152C>T	NP_001345460.1:p.Ala384=
NM_001358533.1:c.*270C>T	NP_001345462.1:n.*270C>T
NM_001358534.1:c.*270C>T	NP_001345463.1:n.*270C>T
NM_001358530.2:c.1413C>T MANE Select	NP_001345459.1:p.Ala471=
NM_001075098.4:c.*270C>T	NP_001068566.1:n.*270C>T
NM_001358529.2:c.1365C>T	NP_001345458.1:p.Ala455=
NM_001358531.2:c.1152C>T	NP_001345460.1:p.Ala384=
NM_001358533.2:c.*270C>T	NP_001345462.1:n.*270C>T
NR_033233.2:n.1283C>T
NM_001358534.2:c.*270C>T	NP_001345463.1:n.*270C>T
NM_005943.6:c.*270C>T	NP_005934.2:n.*270C>T