Canonical Allele Identifier: CA9358513

Gene: SLC7A9

Linked Data

• ClinVar Variation Id: 328748
• ClinVar RCV Id: RCV000363384 ; RCV002521202
• dbSNP Id: rs367844535
• ExAC: 19:33334747 G / T
• gnomAD v2: 19-33334747-G-T
• gnomAD v3: 19-32843841-G-T
• gnomAD v4: 19-32843841-G-T
• MyVariant Identifiers: chr19:g.33334747G>T (hg19) ; chr19:g.32843841G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.32843841G>T , CM000681.2:g.32843841G>T	GRCh38
NC_000019.9:g.33334747G>T , CM000681.1:g.33334747G>T	GRCh37
NC_000019.8:g.38026587G>T	NCBI36
NG_008258.1:g.30937C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000023064.9:c.1074+14C>A MANE Select	ENSP00000023064.3:n.1074+14C>A
ENST00000023064.8:c.1074+14C>A	ENSP00000023064.3:n.1074+14C>A
ENST00000587772.1:c.1074+14C>A	ENSP00000468439.1:n.1074+14C>A
ENST00000590341.5:c.1074+14C>A	ENSP00000464822.1:n.1074+14C>A
ENST00000590465.5:c.*1221+14C>A	ENSP00000468076.1:n.*1221+14C>A
ENST00000592232.5:c.*484-1524C>A	ENSP00000465563.1:n.*484-1524C>A
NM_001126335.1:c.1074+14C>A	NP_001119807.1:n.1074+14C>A
NM_001243036.1:c.1074+14C>A	NP_001229965.1:n.1074+14C>A
NM_014270.4:c.1074+14C>A	NP_055085.1:n.1074+14C>A
XM_006722992.1:c.393+14C>A	XP_006723055.1:n.393+14C>A
XM_011526402.1:c.1074+14C>A	XP_011524704.1:n.1074+14C>A
XM_011526402.3:c.1074+14C>A	XP_011524704.1:n.1074+14C>A
XM_017026230.1:c.810+14C>A	XP_016881719.1:n.810+14C>A
XM_024451334.1:c.447+14C>A	XP_024307102.1:n.447+14C>A
NM_014270.5:c.1074+14C>A MANE Select	NP_055085.1:n.1074+14C>A
NM_001126335.2:c.1074+14C>A	NP_001119807.1:n.1074+14C>A
NM_001243036.2:c.1074+14C>A	NP_001229965.1:n.1074+14C>A