Canonical Allele Identifier: CA192413763
Gene: APTX HGNC NCBI

Linked Data

dbSNP Id: rs1556249
gnomAD v2: 9-33020221-C-T
gnomAD v3: 9-33020223-C-T
gnomAD v4: 9-33020223-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.33020223C>T , CM000671.2:g.33020223C>T GRCh38
NC_000009.11:g.33020221C>T , CM000671.1:g.33020221C>T GRCh37
NC_000009.10:g.33010221C>T NCBI36
NG_012821.2:g.9909G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000436040.7:c.-5+4800G>A ENSP00000400806.4:n.-5+4800G>A
ENST00000460940.6:c.-5+4777G>A ENSP00000418311.1:n.-5+4777G>A
ENST00000467331.6:c.-5+4581G>A ENSP00000418733.1:n.-5+4581G>A
ENST00000468275.6:c.-5+4581G>A ENSP00000420263.2:n.-5+4581G>A
ENST00000482687.6:c.-5+4581G>A ENSP00000419289.2:n.-5+4581G>A
ENST00000485479.6:c.-5+4777G>A ENSP00000418144.1:n.-5+4777G>A
ENST00000495360.6:c.-5+4777G>A ENSP00000419623.2:n.-5+4777G>A
ENST00000673248.1:c.-127+4581G>A ENSP00000500601.1:n.-127+4581G>A
ENST00000673360.1:c.-5+4581G>A ENSP00000500360.1:n.-5+4581G>A
ENST00000673487.1:c.-5+4581G>A ENSP00000500943.1:n.-5+4581G>A
ENST00000460945.5:n.169+4777G>A
ENST00000473270.1:n.308-3998G>A
ENST00000489583.1:n.185-57G>A
ENST00000495360.5:c.-5+4581G>A ENSP00000419623.1:n.-5+4581G>A
XM_011517936.1:c.-264+4800G>A XP_011516238.1:n.-264+4800G>A
XM_011517937.1:c.-222+4777G>A XP_011516239.1:n.-222+4777G>A
XM_017014837.2:c.-5+4581G>A XP_016870326.1:n.-5+4581G>A
XM_024447575.1:c.-5+4581G>A XP_024303343.1:n.-5+4581G>A
XM_024447576.1:c.-5+4777G>A XP_024303344.1:n.-5+4777G>A
XM_024447577.1:c.-5+4800G>A XP_024303345.1:n.-5+4800G>A
XM_024447579.1:c.-5+4581G>A XP_024303347.1:n.-5+4581G>A
XM_024447580.1:c.-5+4800G>A XP_024303348.1:n.-5+4800G>A
XM_024447581.1:c.-264+4581G>A XP_024303349.1:n.-264+4581G>A
XM_024447582.1:c.-264+4777G>A XP_024303350.1:n.-264+4777G>A
NM_001368995.1:c.-5+4777G>A NP_001355924.1:n.-5+4777G>A
NM_001368996.1:c.-5+4800G>A NP_001355925.1:n.-5+4800G>A
NM_001368997.1:c.-5+4581G>A NP_001355926.1:n.-5+4581G>A
NM_001368999.1:c.-5+4581G>A NP_001355928.1:n.-5+4581G>A
NM_001369000.1:c.-5+4581G>A NP_001355929.1:n.-5+4581G>A
NM_001369001.1:c.-5+4800G>A NP_001355930.1:n.-5+4800G>A
NM_001369002.1:c.-264+4777G>A NP_001355931.1:n.-264+4777G>A
NM_001369003.1:c.-264+4581G>A NP_001355932.1:n.-264+4581G>A
NR_160922.1:n.317+4581G>A
NR_160923.1:n.121+4777G>A
NR_160924.1:n.121+4777G>A
NR_160925.1:n.317+4581G>A
NR_160926.1:n.121+4777G>A
NR_160927.1:n.317+4581G>A
NR_160928.1:n.317+4581G>A
NR_160929.1:n.121+4777G>A