Canonical Allele Identifier: CA349701346
Community Standard Title: NM_003659.4(AGPS):c.288G>A (p.Trp96Ter)
Gene: AGPS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.177420296G>A , CM000664.2:g.177420296G>A GRCh38
NC_000002.11:g.178285024G>A , CM000664.1:g.178285024G>A GRCh37
NC_000002.10:g.177993270G>A NCBI36
NG_008968.1:g.32554G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003659.4:c.288G>A MANE Select NP_003650.1:p.Trp96Ter
ENST00000264167.11:c.288G>A MANE Select ENSP00000264167.4:p.Trp96Ter
NM_003659.3:c.288G>A NP_003650.1:p.Trp96Ter
ENST00000264167.8:c.288G>A ENSP00000264167.4:p.Trp96Ter
ENST00000409888.1:c.288G>A ENSP00000386688.1:p.Trp96Ter
ENST00000460342.2:n.330G>A
ENST00000637633.2:c.288G>A ENSP00000490844.2:p.Trp96Ter
ENST00000642466.2:c.288G>A ENSP00000494433.2:p.Trp96Ter
ENST00000679421.1:n.318G>A
ENST00000679459.1:c.288G>A ENSP00000506137.1:p.Trp96Ter
ENST00000679478.1:c.18G>A ENSP00000506484.1:p.Trp6Ter
ENST00000679639.1:n.91G>A
ENST00000679994.1:c.18G>A ENSP00000504957.1:p.Trp6Ter
ENST00000680028.1:n.453G>A
ENST00000680155.1:c.18G>A ENSP00000505333.1:p.Trp6Ter
ENST00000680677.1:n.318G>A
ENST00000680705.1:n.332G>A
ENST00000680770.1:c.288G>A ENSP00000505536.1:p.Trp96Ter
ENST00000680893.1:c.288G>A ENSP00000505929.1:p.Trp96Ter
ENST00000680910.1:n.318G>A
ENST00000681028.1:c.18G>A ENSP00000506323.1:p.Trp6Ter
ENST00000681032.1:c.288G>A ENSP00000505205.1:p.Trp96Ter
ENST00000681449.1:c.18G>A ENSP00000505342.1:p.Trp6Ter
ENST00000681565.1:c.288G>A ENSP00000505620.1:p.Trp96Ter
ENST00000681752.1:c.288G>A ENSP00000504994.1:p.Trp96Ter
ENST00000681891.1:n.2662G>A
XM_011512041.1:c.18G>A XP_011510343.1:p.Trp6Ter
XM_011512041.2:c.18G>A XP_011510343.1:p.Trp6Ter
XM_011512042.1:c.18G>A XP_011510344.1:p.Trp6Ter
XM_011512044.1:c.288G>A XP_011510346.1:p.Trp96Ter
XM_011512045.1:c.288G>A XP_011510347.1:p.Trp96Ter
XR_001739007.2:n.305G>A