Canonical Allele Identifier: CA16609556

Gene: SLC7A9

Linked Data

• ClinVar Variation Id: 402239
• ClinVar RCV Id: RCV000454228
• dbSNP Id: rs1060499787
• gnomAD v2: 19-33351511-C-G
• gnomAD v4: 19-32860605-C-G
• MyVariant Identifiers: chr19:g.33351511C>G (hg19) ; chr19:g.32860605C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.32860605C>G , CM000681.2:g.32860605C>G	GRCh38
NC_000019.9:g.33351511C>G , CM000681.1:g.33351511C>G	GRCh37
NC_000019.8:g.38043351C>G	NCBI36
NG_008258.1:g.14173G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000023064.9:c.749+1G>C MANE Select	ENSP00000023064.3:n.749+1G>C
ENST00000023064.8:c.749+1G>C	ENSP00000023064.3:n.749+1G>C
ENST00000587772.1:c.749+1G>C	ENSP00000468439.1:n.749+1G>C
ENST00000589659.1:n.694+1G>C
ENST00000590341.5:c.749+1G>C	ENSP00000464822.1:n.749+1G>C
ENST00000590465.5:c.*256G>C	ENSP00000468076.1:n.*256G>C
ENST00000592232.5:c.*255+1G>C	ENSP00000465563.1:n.*255+1G>C
NM_001126335.1:c.749+1G>C	NP_001119807.1:n.749+1G>C
NM_001243036.1:c.749+1G>C	NP_001229965.1:n.749+1G>C
NM_014270.4:c.749+1G>C	NP_055085.1:n.749+1G>C
XM_006722992.1:c.68+1G>C	XP_006723055.1:n.68+1G>C
XM_011526402.1:c.749+1G>C	XP_011524704.1:n.749+1G>C
XM_011526402.3:c.749+1G>C	XP_011524704.1:n.749+1G>C
XM_017026230.1:c.485+1G>C	XP_016881719.1:n.485+1G>C
XM_024451334.1:c.-519G>C	XP_024307102.1:n.-519G>C
NM_014270.5:c.749+1G>C MANE Select	NP_055085.1:n.749+1G>C
NM_001126335.2:c.749+1G>C	NP_001119807.1:n.749+1G>C
NM_001243036.2:c.749+1G>C	NP_001229965.1:n.749+1G>C