Canonical Allele Identifier: CA349374038
Gene: AGPS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.177521311T>A , CM000664.2:g.177521311T>A GRCh38
NC_000002.11:g.178386039T>A , CM000664.1:g.178386039T>A GRCh37
NC_000002.10:g.178094285T>A NCBI36
NG_008968.1:g.133569T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264167.11:c.1740T>A MANE Select ENSP00000264167.4:p.Tyr580Ter
ENST00000637633.2:c.1740T>A ENSP00000490844.2:p.Tyr580Ter
ENST00000642466.2:c.1740T>A ENSP00000494433.2:p.Tyr580Ter
ENST00000679421.1:n.2969T>A
ENST00000679459.1:c.1740T>A ENSP00000506137.1:p.Tyr580Ter
ENST00000679478.1:c.1470T>A ENSP00000506484.1:p.Tyr490Ter
ENST00000679994.1:c.1470T>A ENSP00000504957.1:p.Tyr490Ter
ENST00000680028.1:n.3104T>A
ENST00000680155.1:c.1470T>A ENSP00000505333.1:p.Tyr490Ter
ENST00000680390.1:n.775T>A
ENST00000680770.1:c.1740T>A ENSP00000505536.1:p.Tyr580Ter
ENST00000680893.1:c.*988T>A ENSP00000505929.1:n.*988T>A
ENST00000681028.1:c.*167T>A ENSP00000506323.1:n.*167T>A
ENST00000681032.1:c.*1118T>A ENSP00000505205.1:n.*1118T>A
ENST00000681300.1:n.695T>A
ENST00000681449.1:c.1470T>A ENSP00000505342.1:p.Tyr490Ter
ENST00000681565.1:c.*873T>A ENSP00000505620.1:n.*873T>A
ENST00000681752.1:c.*1510T>A ENSP00000504994.1:n.*1510T>A
ENST00000681891.1:n.5375T>A
ENST00000264167.8:c.1740T>A ENSP00000264167.4:p.Tyr580Ter
ENST00000409888.1:c.351-18T>A ENSP00000386688.1:n.351-18T>A
NM_003659.3:c.1740T>A NP_003650.1:p.Tyr580Ter
XM_011512041.1:c.1470T>A XP_011510343.1:p.Tyr490Ter
XM_011512042.1:c.1470T>A XP_011510344.1:p.Tyr490Ter
XM_011512043.1:c.1005T>A XP_011510345.1:p.Tyr335Ter
XM_011512041.2:c.1470T>A XP_011510343.1:p.Tyr490Ter
XM_011512043.2:c.1005T>A XP_011510345.1:p.Tyr335Ter
XR_001739007.2:n.1648T>A
NM_003659.4:c.1740T>A MANE Select NP_003650.1:p.Tyr580Ter