Canonical Allele Identifier: CA405202423

Gene: SLC7A9

Linked Data

• gnomAD v4: 19-32862147-A-C
• MyVariant Identifiers: chr19:g.33353053A>C (hg19) ; chr19:g.32862147A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.32862147A>C , CM000681.2:g.32862147A>C	GRCh38
NC_000019.9:g.33353053A>C , CM000681.1:g.33353053A>C	GRCh37
NC_000019.8:g.38044893A>C	NCBI36
NG_008258.1:g.12631T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000023064.9:c.675T>G MANE Select	ENSP00000023064.3:p.Phe225Leu
ENST00000023064.8:c.675T>G	ENSP00000023064.3:p.Phe225Leu
ENST00000587772.1:c.675T>G	ENSP00000468439.1:p.Phe225Leu
ENST00000589659.1:n.620T>G
ENST00000590341.5:c.675T>G	ENSP00000464822.1:p.Phe225Leu
ENST00000590465.5:c.*211-1497T>G	ENSP00000468076.1:n.*211-1497T>G
ENST00000592232.5:c.*211-1497T>G	ENSP00000465563.1:n.*211-1497T>G
NM_001126335.1:c.675T>G	NP_001119807.1:p.Phe225Leu
NM_001243036.1:c.675T>G	NP_001229965.1:p.Phe225Leu
NM_014270.4:c.675T>G	NP_055085.1:p.Phe225Leu
XM_006722992.1:c.24-1497T>G	XP_006723055.1:n.24-1497T>G
XM_011526402.1:c.675T>G	XP_011524704.1:p.Phe225Leu
XM_011526402.3:c.675T>G	XP_011524704.1:p.Phe225Leu
XM_017026230.1:c.411T>G	XP_016881719.1:p.Phe137Leu
XM_024451334.1:c.-564-1497T>G	XP_024307102.1:n.-564-1497T>G
NM_014270.5:c.675T>G MANE Select	NP_055085.1:p.Phe225Leu
NM_001126335.2:c.675T>G	NP_001119807.1:p.Phe225Leu
NM_001243036.2:c.675T>G	NP_001229965.1:p.Phe225Leu