Canonical Allele Identifier: CA117735
Gene: SLC7A9 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5791
ClinVar RCV Id: RCV000006147
dbSNP Id: rs121908487

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.32862127T>C , CM000681.2:g.32862127T>C GRCh38
NC_000019.9:g.33353033T>C , CM000681.1:g.33353033T>C GRCh37
NC_000019.8:g.38044873T>C NCBI36
NG_008258.1:g.12651A>G

Transcript Alleles

HGVS Amino-acid change
NM_001126335.1:c.695A>G VV NP_001119807.1:p.Tyr232Cys
NM_001243036.1:c.695A>G VV NP_001229965.1:p.Tyr232Cys
NM_014270.4:c.695A>G VV NP_055085.1:p.Tyr232Cys
XM_006722992.1:c.24-1477A>G XP_006723055.1:p.=
XM_011526402.1:c.695A>G XP_011524704.1:p.Tyr232Cys
XM_011526402.3:c.695A>G
XM_017026230.1:c.431A>G XP_016881719.1:p.Tyr144Cys
XM_024451334.1:c.-564-1477A>G XP_024307102.1:p.=
NM_014270.5:c.695A>G VV MANE Preferred
ENST00000023064.8:c.695A>G ENSP00000023064.3:p.Tyr232Cys
ENST00000587772.1:c.695A>G ENSP00000468439.1:p.Tyr232Cys
ENST00000589659.1:n.640A>G
ENST00000590341.5:c.695A>G ENSP00000464822.1:p.Tyr232Cys
ENST00000590465.5:c.*211-1477A>G ENSP00000468076.1:p.=
ENST00000592232.5:c.*211-1477A>G ENSP00000465563.1:p.=