Canonical Allele Identifier: CA9358915
Community Standard Title: NM_014270.5(SLC7A9):c.225C>T (p.Leu75=)
Gene: SLC7A9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.32864639G>A , CM000681.2:g.32864639G>A GRCh38
NC_000019.9:g.33355545G>A , CM000681.1:g.33355545G>A GRCh37
NC_000019.8:g.38047385G>A NCBI36
NG_008258.1:g.10139C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014270.5:c.225C>T MANE Select NP_055085.1:p.Leu75=
ENST00000023064.9:c.225C>T MANE Select ENSP00000023064.3:p.Leu75=
NM_001126335.1:c.225C>T NP_001119807.1:p.Leu75=
NM_001126335.2:c.225C>T NP_001119807.1:p.Leu75=
NM_001243036.1:c.225C>T NP_001229965.1:p.Leu75=
NM_001243036.2:c.225C>T NP_001229965.1:p.Leu75=
NM_014270.4:c.225C>T NP_055085.1:p.Leu75=
ENST00000023064.8:c.225C>T ENSP00000023064.3:p.Leu75=
ENST00000587772.1:c.225C>T ENSP00000468439.1:p.Leu75=
ENST00000590341.5:c.225C>T ENSP00000464822.1:p.Leu75=
ENST00000590465.5:c.88-301C>T ENSP00000468076.1:n.88-301C>T
ENST00000592232.5:c.88-301C>T ENSP00000465563.1:n.88-301C>T
XM_006722992.1:c.-231C>T XP_006723055.1:n.-231C>T
XM_011526402.1:c.225C>T XP_011524704.1:p.Leu75=
XM_011526402.3:c.225C>T XP_011524704.1:p.Leu75=
XM_017026230.1:c.-29-301C>T XP_016881719.1:n.-29-301C>T
XM_024451334.1:c.-818C>T XP_024307102.1:n.-818C>T