Canonical Allele Identifier: CA364030633

Gene: MOCS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.39934360T>G , CM000668.2:g.39934360T>G	GRCh38
NC_000006.11:g.39902099T>G , CM000668.1:g.39902099T>G	GRCh37
NC_000006.10:g.40010077T>G	NCBI36
NG_009297.1:g.5156A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001358530.2:c.58A>C MANE Select	NP_001345459.1:p.Ser20Arg
ENST00000340692.10:c.58A>C MANE Select	ENSP00000344794.5:p.Ser20Arg
NM_001075098.3:c.58A>C	NP_001068566.1:p.Ser20Arg
NM_001075098.4:c.58A>C	NP_001068566.1:p.Ser20Arg
NM_001358529.1:c.58A>C	NP_001345458.1:p.Ser20Arg
NM_001358529.2:c.58A>C	NP_001345458.1:p.Ser20Arg
NM_001358530.1:c.58A>C	NP_001345459.1:p.Ser20Arg
NM_001358531.1:c.-77A>C	NP_001345460.1:n.-77A>C
NM_001358531.2:c.-77A>C	NP_001345460.1:n.-77A>C
NM_001358533.1:c.-77A>C	NP_001345462.1:n.-77A>C
NM_001358533.2:c.-77A>C	NP_001345462.1:n.-77A>C
NR_033233.1:n.192A>C
NR_033233.2:n.103A>C
ENST00000340692.9:c.58A>C	ENSP00000344794.5:p.Ser20Arg
ENST00000373188.6:c.58A>C	ENSP00000362284.2:p.Ser20Arg
ENST00000373195.7:c.-77A>C	ENSP00000362291.3:n.-77A>C
ENST00000473742.1:n.65A>C
ENST00000487924.1:c.58A>C	ENSP00000418315.1:p.Ser20Arg
XM_011514632.1:c.58A>C	XP_011512934.1:p.Ser20Arg
XM_011514633.1:c.58A>C	XP_011512935.1:p.Ser20Arg
XM_011514634.1:c.-77A>C	XP_011512936.1:n.-77A>C
XM_011514635.1:c.58A>C	XP_011512937.1:p.Ser20Arg
XR_926225.1:n.103A>C