Canonical Allele Identifier: CA9358452
Community Standard Title: NM_014270.5(SLC7A9):c.1225-8G>A
Gene: SLC7A9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.32833331C>T , CM000681.2:g.32833331C>T GRCh38
NC_000019.9:g.33324237C>T , CM000681.1:g.33324237C>T GRCh37
NC_000019.8:g.38016077C>T NCBI36
NG_008258.1:g.41447G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014270.5:c.1225-8G>A MANE Select NP_055085.1:n.1225-8G>A
ENST00000023064.9:c.1225-8G>A MANE Select ENSP00000023064.3:n.1225-8G>A
NM_001126335.1:c.1225-8G>A NP_001119807.1:n.1225-8G>A
NM_001126335.2:c.1225-8G>A NP_001119807.1:n.1225-8G>A
NM_001243036.1:c.1225-8G>A NP_001229965.1:n.1225-8G>A
NM_001243036.2:c.1225-8G>A NP_001229965.1:n.1225-8G>A
NM_014270.4:c.1225-8G>A NP_055085.1:n.1225-8G>A
ENST00000023064.8:c.1225-8G>A ENSP00000023064.3:n.1225-8G>A
ENST00000587772.1:c.1225-8G>A ENSP00000468439.1:n.1225-8G>A
ENST00000590341.5:c.1225-8G>A ENSP00000464822.1:n.1225-8G>A
ENST00000590465.5:c.*1372-8G>A ENSP00000468076.1:n.*1372-8G>A
ENST00000592232.5:c.*634-8G>A ENSP00000465563.1:n.*634-8G>A
XM_006722992.1:c.544-8G>A XP_006723055.1:n.544-8G>A
XM_011526402.1:c.1225-8G>A XP_011524704.1:n.1225-8G>A
XM_011526402.3:c.1225-8G>A XP_011524704.1:n.1225-8G>A
XM_017026230.1:c.961-8G>A XP_016881719.1:n.961-8G>A
XM_024451334.1:c.598-8G>A XP_024307102.1:n.598-8G>A