Canonical Allele Identifier: CA9358429

Gene: SLC7A9

Linked Data

• ClinVar Variation Id: 889688
• ClinVar RCV Id: RCV001123747 ; RCV001216402 ; RCV003396758
• dbSNP Id: rs138086959
• ExAC: 19:33324085 A / G
• gnomAD v2: 19-33324085-A-G
• gnomAD v3: 19-32833179-A-G
• gnomAD v4: 19-32833179-A-G
• MyVariant Identifiers: chr19:g.33324085A>G (hg19) ; chr19:g.32833179A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.32833179A>G , CM000681.2:g.32833179A>G	GRCh38
NC_000019.9:g.33324085A>G , CM000681.1:g.33324085A>G	GRCh37
NC_000019.8:g.38015925A>G	NCBI36
NG_008258.1:g.41599T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000023064.9:c.1369T>C MANE Select	ENSP00000023064.3:p.Tyr457His
ENST00000023064.8:c.1369T>C	ENSP00000023064.3:p.Tyr457His
ENST00000587772.1:c.1369T>C	ENSP00000468439.1:p.Tyr457His
ENST00000590341.5:c.1369T>C	ENSP00000464822.1:p.Tyr457His
ENST00000590465.5:c.*1516T>C	ENSP00000468076.1:n.*1516T>C
ENST00000592232.5:c.*778T>C	ENSP00000465563.1:n.*778T>C
NM_001126335.1:c.1369T>C	NP_001119807.1:p.Tyr457His
NM_001243036.1:c.1369T>C	NP_001229965.1:p.Tyr457His
NM_014270.4:c.1369T>C	NP_055085.1:p.Tyr457His
XM_006722992.1:c.688T>C	XP_006723055.1:p.Tyr230His
XM_011526402.1:c.1369T>C	XP_011524704.1:p.Tyr457His
XM_011526402.3:c.1369T>C	XP_011524704.1:p.Tyr457His
XM_017026230.1:c.1105T>C	XP_016881719.1:p.Tyr369His
XM_024451334.1:c.742T>C	XP_024307102.1:p.Tyr248His
NM_014270.5:c.1369T>C MANE Select	NP_055085.1:p.Tyr457His
NM_001126335.2:c.1369T>C	NP_001119807.1:p.Tyr457His
NM_001243036.2:c.1369T>C	NP_001229965.1:p.Tyr457His