Canonical Allele Identifier: CA9358437
Community Standard Title: NM_014270.5(SLC7A9):c.1304G>A (p.Trp435Ter)
Gene: SLC7A9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.32833244C>T , CM000681.2:g.32833244C>T GRCh38
NC_000019.9:g.33324150C>T , CM000681.1:g.33324150C>T GRCh37
NC_000019.8:g.38015990C>T NCBI36
NG_008258.1:g.41534G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014270.5:c.1304G>A MANE Select NP_055085.1:p.Trp435Ter
ENST00000023064.9:c.1304G>A MANE Select ENSP00000023064.3:p.Trp435Ter
NM_001126335.1:c.1304G>A NP_001119807.1:p.Trp435Ter
NM_001126335.2:c.1304G>A NP_001119807.1:p.Trp435Ter
NM_001243036.1:c.1304G>A NP_001229965.1:p.Trp435Ter
NM_001243036.2:c.1304G>A NP_001229965.1:p.Trp435Ter
NM_014270.4:c.1304G>A NP_055085.1:p.Trp435Ter
ENST00000023064.8:c.1304G>A ENSP00000023064.3:p.Trp435Ter
ENST00000587772.1:c.1304G>A ENSP00000468439.1:p.Trp435Ter
ENST00000590341.5:c.1304G>A ENSP00000464822.1:p.Trp435Ter
ENST00000590465.5:c.*1451G>A ENSP00000468076.1:n.*1451G>A
ENST00000592232.5:c.*713G>A ENSP00000465563.1:n.*713G>A
XM_006722992.1:c.623G>A XP_006723055.1:p.Trp208Ter
XM_011526402.1:c.1304G>A XP_011524704.1:p.Trp435Ter
XM_011526402.3:c.1304G>A XP_011524704.1:p.Trp435Ter
XM_017026230.1:c.1040G>A XP_016881719.1:p.Trp347Ter
XM_024451334.1:c.677G>A XP_024307102.1:p.Trp226Ter