Canonical Allele Identifier: CA450207652

Gene: MOCS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.39925757G>A , CM000668.2:g.39925757G>A	GRCh38
NC_000006.11:g.39893501G>A , CM000668.1:g.39893501G>A	GRCh37
NC_000006.10:g.40001479G>A	NCBI36
NG_009297.1:g.13754C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001358530.2:c.339C>T MANE Select	NP_001345459.1:p.Leu113=
ENST00000340692.10:c.339C>T MANE Select	ENSP00000344794.5:p.Leu113=
NM_001075098.3:c.339C>T	NP_001068566.1:p.Leu113=
NM_001075098.4:c.339C>T	NP_001068566.1:p.Leu113=
NM_001358529.1:c.339C>T	NP_001345458.1:p.Leu113=
NM_001358529.2:c.339C>T	NP_001345458.1:p.Leu113=
NM_001358530.1:c.339C>T	NP_001345459.1:p.Leu113=
NM_001358531.1:c.78C>T	NP_001345460.1:p.Leu26=
NM_001358531.2:c.78C>T	NP_001345460.1:p.Leu26=
NM_001358533.1:c.78C>T	NP_001345462.1:p.Leu26=
NM_001358533.2:c.78C>T	NP_001345462.1:p.Leu26=
NM_001358534.1:c.78C>T	NP_001345463.1:p.Leu26=
NM_001358534.2:c.78C>T	NP_001345463.1:p.Leu26=
NM_005943.5:c.339C>T	NP_005934.2:p.Leu113=
NM_005943.6:c.339C>T	NP_005934.2:p.Leu113=
NR_033233.1:n.346C>T
NR_033233.2:n.257C>T
ENST00000340692.9:c.339C>T	ENSP00000344794.5:p.Leu113=
ENST00000373181.8:c.78C>T	ENSP00000362277.4:p.Leu26=
ENST00000373186.8:c.339C>T	ENSP00000362282.4:p.Leu113=
ENST00000373188.6:c.339C>T	ENSP00000362284.2:p.Leu113=
ENST00000373195.7:c.78C>T	ENSP00000362291.3:p.Leu26=
ENST00000425303.6:c.339C>T	ENSP00000416478.2:p.Leu113=
ENST00000432280.2:c.252C>T	ENSP00000410809.2:p.Leu84=
ENST00000473742.1:n.219C>T
ENST00000487924.1:c.*187C>T	ENSP00000418315.1:n.*187C>T
ENST00000645522.1:n.477C>T
XM_011514632.1:c.339C>T	XP_011512934.1:p.Leu113=
XM_011514633.1:c.339C>T	XP_011512935.1:p.Leu113=
XM_011514634.1:c.78C>T	XP_011512936.1:p.Leu26=
XM_011514635.1:c.339C>T	XP_011512937.1:p.Leu113=
XR_926225.1:n.384C>T