Canonical Allele Identifier: CA349364165
Gene: AGPS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.177493180C>G , CM000664.2:g.177493180C>G GRCh38
NC_000002.11:g.178357908C>G , CM000664.1:g.178357908C>G GRCh37
NC_000002.10:g.178066154C>G NCBI36
NG_008968.1:g.105438C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264167.11:c.1266C>G MANE Select ENSP00000264167.4:p.Asp422Glu
ENST00000637633.2:c.1266C>G ENSP00000490844.2:p.Asp422Glu
ENST00000642466.2:c.1266C>G ENSP00000494433.2:p.Asp422Glu
ENST00000679421.1:n.2495C>G
ENST00000679459.1:c.1266C>G ENSP00000506137.1:p.Asp422Glu
ENST00000679478.1:c.996C>G ENSP00000506484.1:p.Asp332Glu
ENST00000679994.1:c.996C>G ENSP00000504957.1:p.Asp332Glu
ENST00000680028.1:n.2630C>G
ENST00000680155.1:c.996C>G ENSP00000505333.1:p.Asp332Glu
ENST00000680390.1:n.301C>G
ENST00000680705.1:n.1310C>G
ENST00000680770.1:c.1266C>G ENSP00000505536.1:p.Asp422Glu
ENST00000680893.1:c.*514C>G ENSP00000505929.1:n.*514C>G
ENST00000680910.1:n.1296C>G
ENST00000681028.1:c.996C>G ENSP00000506323.1:p.Asp332Glu
ENST00000681032.1:c.*644C>G ENSP00000505205.1:n.*644C>G
ENST00000681300.1:n.221C>G
ENST00000681449.1:c.996C>G ENSP00000505342.1:p.Asp332Glu
ENST00000681565.1:c.*399C>G ENSP00000505620.1:n.*399C>G
ENST00000681752.1:c.*1036C>G ENSP00000504994.1:n.*1036C>G
ENST00000681891.1:n.4901C>G
ENST00000264167.8:c.1266C>G ENSP00000264167.4:p.Asp422Glu
ENST00000409888.1:c.351-28149C>G ENSP00000386688.1:n.351-28149C>G
NM_003659.3:c.1266C>G NP_003650.1:p.Asp422Glu
XM_011512041.1:c.996C>G XP_011510343.1:p.Asp332Glu
XM_011512042.1:c.996C>G XP_011510344.1:p.Asp332Glu
XM_011512043.1:c.531C>G XP_011510345.1:p.Asp177Glu
XM_011512041.2:c.996C>G XP_011510343.1:p.Asp332Glu
XM_011512043.2:c.531C>G XP_011510345.1:p.Asp177Glu
XR_001739007.2:n.1174C>G
NM_003659.4:c.1266C>G MANE Select NP_003650.1:p.Asp422Glu