Canonical Allele Identifier: CA192412476

Gene: APTX

Linked Data

• dbSNP Id: rs142332613
• gnomAD v2: 9-33014786-T-C
• gnomAD v3: 9-33014788-T-C
• gnomAD v4: 9-33014788-T-C
• MyVariant Identifiers: chr9:g.33014786T>C (hg19) ; chr9:g.33014788T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.33014788T>C , CM000671.2:g.33014788T>C	GRCh38
NC_000009.11:g.33014786T>C , CM000671.1:g.33014786T>C	GRCh37
NC_000009.10:g.33004786T>C	NCBI36
NG_012821.2:g.15344A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000436040.7:c.-5+10235A>G	ENSP00000400806.4:n.-5+10235A>G
ENST00000460940.6:c.-5+10212A>G	ENSP00000418311.1:n.-5+10212A>G
ENST00000467331.6:c.-5+10016A>G	ENSP00000418733.1:n.-5+10016A>G
ENST00000468275.6:c.-5+10016A>G	ENSP00000420263.2:n.-5+10016A>G
ENST00000482687.6:c.-5+10016A>G	ENSP00000419289.2:n.-5+10016A>G
ENST00000485479.6:c.-5+10212A>G	ENSP00000418144.1:n.-5+10212A>G
ENST00000495360.6:c.-5+10212A>G	ENSP00000419623.2:n.-5+10212A>G
ENST00000672281.1:n.193+2888A>G
ENST00000673248.1:c.-127+10016A>G	ENSP00000500601.1:n.-127+10016A>G
ENST00000673360.1:c.-5+10016A>G	ENSP00000500360.1:n.-5+10016A>G
ENST00000673487.1:c.-5+10016A>G	ENSP00000500943.1:n.-5+10016A>G
ENST00000460945.5:n.169+10212A>G
ENST00000495360.5:c.-5+10016A>G	ENSP00000419623.1:n.-5+10016A>G
XM_011517936.1:c.-264+10235A>G	XP_011516238.1:n.-264+10235A>G
XM_011517937.1:c.-222+10212A>G	XP_011516239.1:n.-222+10212A>G
XM_017014837.2:c.-5+10016A>G	XP_016870326.1:n.-5+10016A>G
XM_024447575.1:c.-5+10016A>G	XP_024303343.1:n.-5+10016A>G
XM_024447576.1:c.-5+10212A>G	XP_024303344.1:n.-5+10212A>G
XM_024447577.1:c.-5+10235A>G	XP_024303345.1:n.-5+10235A>G
XM_024447579.1:c.-5+10016A>G	XP_024303347.1:n.-5+10016A>G
XM_024447580.1:c.-5+10235A>G	XP_024303348.1:n.-5+10235A>G
XM_024447581.1:c.-264+10016A>G	XP_024303349.1:n.-264+10016A>G
XM_024447582.1:c.-264+10212A>G	XP_024303350.1:n.-264+10212A>G
NM_001368995.1:c.-5+10212A>G	NP_001355924.1:n.-5+10212A>G
NM_001368996.1:c.-5+10235A>G	NP_001355925.1:n.-5+10235A>G
NM_001368997.1:c.-5+10016A>G	NP_001355926.1:n.-5+10016A>G
NM_001368999.1:c.-5+10016A>G	NP_001355928.1:n.-5+10016A>G
NM_001369000.1:c.-5+10016A>G	NP_001355929.1:n.-5+10016A>G
NM_001369001.1:c.-5+10235A>G	NP_001355930.1:n.-5+10235A>G
NM_001369002.1:c.-264+10212A>G	NP_001355931.1:n.-264+10212A>G
NM_001369003.1:c.-264+10016A>G	NP_001355932.1:n.-264+10016A>G
NR_160922.1:n.317+10016A>G
NR_160923.1:n.121+10212A>G
NR_160924.1:n.121+10212A>G
NR_160925.1:n.317+10016A>G
NR_160926.1:n.121+10212A>G
NR_160927.1:n.317+10016A>G
NR_160928.1:n.317+10016A>G
NR_160929.1:n.121+10212A>G