Canonical Allele Identifier: CA1980334
Community Standard Title: NM_003659.4(AGPS):c.1475+12A>G
Gene: AGPS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.177499742A>G , CM000664.2:g.177499742A>G GRCh38
NC_000002.11:g.178364470A>G , CM000664.1:g.178364470A>G GRCh37
NC_000002.10:g.178072716A>G NCBI36
NG_008968.1:g.112000A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003659.4:c.1475+12A>G MANE Select NP_003650.1:n.1475+12A>G
ENST00000264167.11:c.1475+12A>G MANE Select ENSP00000264167.4:n.1475+12A>G
NM_003659.3:c.1475+12A>G NP_003650.1:n.1475+12A>G
ENST00000264167.8:c.1475+12A>G ENSP00000264167.4:n.1475+12A>G
ENST00000409888.1:c.351-21587A>G ENSP00000386688.1:n.351-21587A>G
ENST00000637633.2:c.1475+12A>G ENSP00000490844.2:n.1475+12A>G
ENST00000642466.2:c.1475+12A>G ENSP00000494433.2:n.1475+12A>G
ENST00000679421.1:n.2704+12A>G
ENST00000679459.1:c.1475+12A>G ENSP00000506137.1:n.1475+12A>G
ENST00000679478.1:c.1205+12A>G ENSP00000506484.1:n.1205+12A>G
ENST00000679994.1:c.1205+12A>G ENSP00000504957.1:n.1205+12A>G
ENST00000680028.1:n.2839+12A>G
ENST00000680155.1:c.1205+12A>G ENSP00000505333.1:n.1205+12A>G
ENST00000680390.1:n.510+12A>G
ENST00000680705.1:n.1519+12A>G
ENST00000680770.1:c.1475+12A>G ENSP00000505536.1:n.1475+12A>G
ENST00000680893.1:c.*723+12A>G ENSP00000505929.1:n.*723+12A>G
ENST00000680910.1:n.1517A>G
ENST00000681028.1:c.1205+12A>G ENSP00000506323.1:n.1205+12A>G
ENST00000681032.1:c.*853+12A>G ENSP00000505205.1:n.*853+12A>G
ENST00000681300.1:n.430+12A>G
ENST00000681449.1:c.1205+12A>G ENSP00000505342.1:n.1205+12A>G
ENST00000681565.1:c.*608+12A>G ENSP00000505620.1:n.*608+12A>G
ENST00000681752.1:c.*1245+12A>G ENSP00000504994.1:n.*1245+12A>G
ENST00000681891.1:n.5110+12A>G
XM_011512041.1:c.1205+12A>G XP_011510343.1:n.1205+12A>G
XM_011512041.2:c.1205+12A>G XP_011510343.1:n.1205+12A>G
XM_011512042.1:c.1205+12A>G XP_011510344.1:n.1205+12A>G
XM_011512043.1:c.740+12A>G XP_011510345.1:n.740+12A>G
XM_011512043.2:c.740+12A>G XP_011510345.1:n.740+12A>G
XR_001739007.2:n.1383+12A>G