Canonical Allele Identifier: CA349704344
Gene: AGPS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.177461924A>T , CM000664.2:g.177461924A>T GRCh38
NC_000002.11:g.178326652A>T , CM000664.1:g.178326652A>T GRCh37
NC_000002.10:g.178034898A>T NCBI36
NG_008968.1:g.74182A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264167.11:c.902A>T MANE Select ENSP00000264167.4:p.Glu301Val
ENST00000460342.2:n.2314A>T
ENST00000637633.2:c.902A>T ENSP00000490844.2:p.Glu301Val
ENST00000642466.2:c.902A>T ENSP00000494433.2:p.Glu301Val
ENST00000679421.1:n.2131A>T
ENST00000679459.1:c.902A>T ENSP00000506137.1:p.Glu301Val
ENST00000679478.1:c.632A>T ENSP00000506484.1:p.Glu211Val
ENST00000679639.1:n.705A>T
ENST00000679994.1:c.632A>T ENSP00000504957.1:p.Glu211Val
ENST00000680028.1:n.2266A>T
ENST00000680155.1:c.632A>T ENSP00000505333.1:p.Glu211Val
ENST00000680705.1:n.946A>T
ENST00000680770.1:c.902A>T ENSP00000505536.1:p.Glu301Val
ENST00000680893.1:c.*150A>T ENSP00000505929.1:n.*150A>T
ENST00000680910.1:n.932A>T
ENST00000681028.1:c.632A>T ENSP00000506323.1:p.Glu211Val
ENST00000681032.1:c.*280A>T ENSP00000505205.1:n.*280A>T
ENST00000681449.1:c.632A>T ENSP00000505342.1:p.Glu211Val
ENST00000681565.1:c.902A>T ENSP00000505620.1:p.Glu301Val
ENST00000681752.1:c.*672A>T ENSP00000504994.1:n.*672A>T
ENST00000681891.1:n.4646A>T
ENST00000264167.8:c.902A>T ENSP00000264167.4:p.Glu301Val
ENST00000409888.1:c.350+41566A>T ENSP00000386688.1:n.350+41566A>T
NM_003659.3:c.902A>T NP_003650.1:p.Glu301Val
XM_011512041.1:c.632A>T XP_011510343.1:p.Glu211Val
XM_011512042.1:c.632A>T XP_011510344.1:p.Glu211Val
XM_011512043.1:c.167A>T XP_011510345.1:p.Glu56Val
XM_011512044.1:c.902A>T XP_011510346.1:p.Glu301Val
XM_011512045.1:c.902A>T XP_011510347.1:p.Glu301Val
XM_011512041.2:c.632A>T XP_011510343.1:p.Glu211Val
XM_011512043.2:c.167A>T XP_011510345.1:p.Glu56Val
XR_001739007.2:n.919A>T
NM_003659.4:c.902A>T MANE Select NP_003650.1:p.Glu301Val