Canonical Allele Identifier: CA405196055
Community Standard Title: NM_014270.5(SLC7A9):c.1400-2A>G
Gene: SLC7A9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.32830686T>C , CM000681.2:g.32830686T>C GRCh38
NC_000019.9:g.33321592T>C , CM000681.1:g.33321592T>C GRCh37
NC_000019.8:g.38013432T>C NCBI36
NG_008258.1:g.44092A>G

Transcript Alleles

HGVS Amino-acid Change
NM_014270.5:c.1400-2A>G MANE Select NP_055085.1:n.1400-2A>G
ENST00000023064.9:c.1400-2A>G MANE Select ENSP00000023064.3:n.1400-2A>G
NM_001126335.1:c.1400-2A>G NP_001119807.1:n.1400-2A>G
NM_001126335.2:c.1400-2A>G NP_001119807.1:n.1400-2A>G
NM_001243036.1:c.1400-2A>G NP_001229965.1:n.1400-2A>G
NM_001243036.2:c.1400-2A>G NP_001229965.1:n.1400-2A>G
NM_014270.4:c.1400-2A>G NP_055085.1:n.1400-2A>G
ENST00000023064.8:c.1400-2A>G ENSP00000023064.3:n.1400-2A>G
ENST00000587772.1:c.1400-2A>G ENSP00000468439.1:n.1400-2A>G
ENST00000590341.5:c.1400-2A>G ENSP00000464822.1:n.1400-2A>G
ENST00000590465.5:c.*1547-2A>G ENSP00000468076.1:n.*1547-2A>G
ENST00000592232.5:c.*809-2A>G ENSP00000465563.1:n.*809-2A>G
XM_006722992.1:c.719-2A>G XP_006723055.1:n.719-2A>G
XM_011526402.1:c.1400-2A>G XP_011524704.1:n.1400-2A>G
XM_011526402.3:c.1400-2A>G XP_011524704.1:n.1400-2A>G
XM_017026230.1:c.1136-2A>G XP_016881719.1:n.1136-2A>G
XM_024451334.1:c.773-2A>G XP_024307102.1:n.773-2A>G