Canonical Allele Identifier: CA364030418
Community Standard Title: NM_001358530.2(MOCS1):c.109C>T (p.Arg37Ter)
Gene: MOCS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.39934309G>A , CM000668.2:g.39934309G>A GRCh38
NC_000006.11:g.39902048G>A , CM000668.1:g.39902048G>A GRCh37
NC_000006.10:g.40010026G>A NCBI36
NG_009297.1:g.5207C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001358530.2:c.109C>T MANE Select NP_001345459.1:p.Arg37Ter
ENST00000340692.10:c.109C>T MANE Select ENSP00000344794.5:p.Arg37Ter
NM_001075098.3:c.109C>T NP_001068566.1:p.Arg37Ter
NM_001075098.4:c.109C>T NP_001068566.1:p.Arg37Ter
NM_001358529.1:c.109C>T NP_001345458.1:p.Arg37Ter
NM_001358529.2:c.109C>T NP_001345458.1:p.Arg37Ter
NM_001358530.1:c.109C>T NP_001345459.1:p.Arg37Ter
NM_001358531.1:c.-26C>T NP_001345460.1:n.-26C>T
NM_001358531.2:c.-26C>T NP_001345460.1:n.-26C>T
NM_001358533.1:c.-26C>T NP_001345462.1:n.-26C>T
NM_001358533.2:c.-26C>T NP_001345462.1:n.-26C>T
NR_033233.1:n.243C>T
NR_033233.2:n.154C>T
ENST00000340692.9:c.109C>T ENSP00000344794.5:p.Arg37Ter
ENST00000373188.6:c.109C>T ENSP00000362284.2:p.Arg37Ter
ENST00000373195.7:c.-26C>T ENSP00000362291.3:n.-26C>T
ENST00000473742.1:n.116C>T
ENST00000487924.1:c.109C>T ENSP00000418315.1:p.Arg37Ter
XM_011514632.1:c.109C>T XP_011512934.1:p.Arg37Ter
XM_011514633.1:c.109C>T XP_011512935.1:p.Arg37Ter
XM_011514634.1:c.-26C>T XP_011512936.1:n.-26C>T
XM_011514635.1:c.109C>T XP_011512937.1:p.Arg37Ter
XR_926225.1:n.154C>T