Canonical Allele Identifier: CA9358568
Community Standard Title: NM_014270.5(SLC7A9):c.972G>A (p.Ala324=)
Gene: SLC7A9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.32858445C>T , CM000681.2:g.32858445C>T GRCh38
NC_000019.9:g.33349351C>T , CM000681.1:g.33349351C>T GRCh37
NC_000019.8:g.38041191C>T NCBI36
NG_008258.1:g.16333G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014270.5:c.972G>A MANE Select NP_055085.1:p.Ala324=
ENST00000023064.9:c.972G>A MANE Select ENSP00000023064.3:p.Ala324=
NM_001126335.1:c.972G>A NP_001119807.1:p.Ala324=
NM_001126335.2:c.972G>A NP_001119807.1:p.Ala324=
NM_001243036.1:c.972G>A NP_001229965.1:p.Ala324=
NM_001243036.2:c.972G>A NP_001229965.1:p.Ala324=
NM_014270.4:c.972G>A NP_055085.1:p.Ala324=
ENST00000023064.8:c.972G>A ENSP00000023064.3:p.Ala324=
ENST00000587772.1:c.972G>A ENSP00000468439.1:p.Ala324=
ENST00000590341.5:c.972G>A ENSP00000464822.1:p.Ala324=
ENST00000590465.5:c.*1119G>A ENSP00000468076.1:n.*1119G>A
ENST00000592232.5:c.*478G>A ENSP00000465563.1:n.*478G>A
XM_006722992.1:c.291G>A XP_006723055.1:p.Ala97=
XM_011526402.1:c.972G>A XP_011524704.1:p.Ala324=
XM_011526402.3:c.972G>A XP_011524704.1:p.Ala324=
XM_017026230.1:c.708G>A XP_016881719.1:p.Ala236=
XM_024451334.1:c.345G>A XP_024307102.1:p.Ala115=