Canonical Allele Identifier: CA307505959
Community Standard Title: NM_014270.5(SLC7A9):c.749+16G>A
Gene: SLC7A9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.32860590C>T , CM000681.2:g.32860590C>T GRCh38
NC_000019.9:g.33351496C>T , CM000681.1:g.33351496C>T GRCh37
NC_000019.8:g.38043336C>T NCBI36
NG_008258.1:g.14188G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014270.5:c.749+16G>A MANE Select NP_055085.1:n.749+16G>A
ENST00000023064.9:c.749+16G>A MANE Select ENSP00000023064.3:n.749+16G>A
NM_001126335.1:c.749+16G>A NP_001119807.1:n.749+16G>A
NM_001126335.2:c.749+16G>A NP_001119807.1:n.749+16G>A
NM_001243036.1:c.749+16G>A NP_001229965.1:n.749+16G>A
NM_001243036.2:c.749+16G>A NP_001229965.1:n.749+16G>A
NM_014270.4:c.749+16G>A NP_055085.1:n.749+16G>A
ENST00000023064.8:c.749+16G>A ENSP00000023064.3:n.749+16G>A
ENST00000587772.1:c.749+16G>A ENSP00000468439.1:n.749+16G>A
ENST00000589659.1:n.694+16G>A
ENST00000590341.5:c.749+16G>A ENSP00000464822.1:n.749+16G>A
ENST00000590465.5:c.*271G>A ENSP00000468076.1:n.*271G>A
ENST00000592232.5:c.*255+16G>A ENSP00000465563.1:n.*255+16G>A
XM_006722992.1:c.68+16G>A XP_006723055.1:n.68+16G>A
XM_011526402.1:c.749+16G>A XP_011524704.1:n.749+16G>A
XM_011526402.3:c.749+16G>A XP_011524704.1:n.749+16G>A
XM_017026230.1:c.485+16G>A XP_016881719.1:n.485+16G>A
XM_024451334.1:c.-504G>A XP_024307102.1:n.-504G>A