Canonical Allele Identifier: CA3796509
Community Standard Title: NM_001358530.2(MOCS1):c.11G>A (p.Arg4Gln)
Gene: MOCS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.39934407C>T , CM000668.2:g.39934407C>T GRCh38
NC_000006.11:g.39902146C>T , CM000668.1:g.39902146C>T GRCh37
NC_000006.10:g.40010124C>T NCBI36
NG_009297.1:g.5109G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001358530.2:c.11G>A MANE Select NP_001345459.1:p.Arg4Gln
ENST00000340692.10:c.11G>A MANE Select ENSP00000344794.5:p.Arg4Gln
NM_001075098.3:c.11G>A NP_001068566.1:p.Arg4Gln
NM_001075098.4:c.11G>A NP_001068566.1:p.Arg4Gln
NM_001358529.1:c.11G>A NP_001345458.1:p.Arg4Gln
NM_001358529.2:c.11G>A NP_001345458.1:p.Arg4Gln
NM_001358530.1:c.11G>A NP_001345459.1:p.Arg4Gln
NM_001358531.1:c.-124G>A NP_001345460.1:n.-124G>A
NM_001358531.2:c.-124G>A NP_001345460.1:n.-124G>A
NM_001358533.1:c.-124G>A NP_001345462.1:n.-124G>A
NM_001358533.2:c.-124G>A NP_001345462.1:n.-124G>A
NR_033233.1:n.145G>A
NR_033233.2:n.56G>A
ENST00000340692.9:c.11G>A ENSP00000344794.5:p.Arg4Gln
ENST00000373188.6:c.11G>A ENSP00000362284.2:p.Arg4Gln
ENST00000373195.7:c.-124G>A ENSP00000362291.3:n.-124G>A
ENST00000473742.1:n.18G>A
ENST00000487924.1:c.11G>A ENSP00000418315.1:p.Arg4Gln
XM_011514632.1:c.11G>A XP_011512934.1:p.Arg4Gln
XM_011514633.1:c.11G>A XP_011512935.1:p.Arg4Gln
XM_011514634.1:c.-124G>A XP_011512936.1:n.-124G>A
XM_011514635.1:c.11G>A XP_011512937.1:p.Arg4Gln
XR_926225.1:n.56G>A