Canonical Allele Identifier: CA506665133
Community Standard Title: NM_014270.5(SLC7A9):c.1399+5G>C
Gene: SLC7A9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.32833144C>G , CM000681.2:g.32833144C>G GRCh38
NC_000019.9:g.33324050C>G , CM000681.1:g.33324050C>G GRCh37
NC_000019.8:g.38015890C>G NCBI36
NG_008258.1:g.41634G>C

Transcript Alleles

HGVS Amino-acid Change
NM_014270.5:c.1399+5G>C MANE Select NP_055085.1:n.1399+5G>C
ENST00000023064.9:c.1399+5G>C MANE Select ENSP00000023064.3:n.1399+5G>C
NM_001126335.1:c.1399+5G>C NP_001119807.1:n.1399+5G>C
NM_001126335.2:c.1399+5G>C NP_001119807.1:n.1399+5G>C
NM_001243036.1:c.1399+5G>C NP_001229965.1:n.1399+5G>C
NM_001243036.2:c.1399+5G>C NP_001229965.1:n.1399+5G>C
NM_014270.4:c.1399+5G>C NP_055085.1:n.1399+5G>C
ENST00000023064.8:c.1399+5G>C ENSP00000023064.3:n.1399+5G>C
ENST00000587772.1:c.1399+5G>C ENSP00000468439.1:n.1399+5G>C
ENST00000590341.5:c.1399+5G>C ENSP00000464822.1:n.1399+5G>C
ENST00000590465.5:c.*1546+5G>C ENSP00000468076.1:n.*1546+5G>C
ENST00000592232.5:c.*808+5G>C ENSP00000465563.1:n.*808+5G>C
XM_006722992.1:c.718+5G>C XP_006723055.1:n.718+5G>C
XM_011526402.1:c.1399+5G>C XP_011524704.1:n.1399+5G>C
XM_011526402.3:c.1399+5G>C XP_011524704.1:n.1399+5G>C
XM_017026230.1:c.1135+5G>C XP_016881719.1:n.1135+5G>C
XM_024451334.1:c.772+5G>C XP_024307102.1:n.772+5G>C