Canonical Allele Identifier: CA405202448

Gene: SLC7A9

Linked Data

• gnomAD v4: 19-32862157-C-G
• MyVariant Identifiers: chr19:g.33353063C>G (hg19) ; chr19:g.32862157C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.32862157C>G , CM000681.2:g.32862157C>G	GRCh38
NC_000019.9:g.33353063C>G , CM000681.1:g.33353063C>G	GRCh37
NC_000019.8:g.38044903C>G	NCBI36
NG_008258.1:g.12621G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000023064.9:c.665G>C MANE Select	ENSP00000023064.3:p.Ser222Thr
ENST00000023064.8:c.665G>C	ENSP00000023064.3:p.Ser222Thr
ENST00000587772.1:c.665G>C	ENSP00000468439.1:p.Ser222Thr
ENST00000589659.1:n.610G>C
ENST00000590341.5:c.665G>C	ENSP00000464822.1:p.Ser222Thr
ENST00000590465.5:c.*211-1507G>C	ENSP00000468076.1:n.*211-1507G>C
ENST00000592232.5:c.*211-1507G>C	ENSP00000465563.1:n.*211-1507G>C
NM_001126335.1:c.665G>C	NP_001119807.1:p.Ser222Thr
NM_001243036.1:c.665G>C	NP_001229965.1:p.Ser222Thr
NM_014270.4:c.665G>C	NP_055085.1:p.Ser222Thr
XM_006722992.1:c.24-1507G>C	XP_006723055.1:n.24-1507G>C
XM_011526402.1:c.665G>C	XP_011524704.1:p.Ser222Thr
XM_011526402.3:c.665G>C	XP_011524704.1:p.Ser222Thr
XM_017026230.1:c.401G>C	XP_016881719.1:p.Ser134Thr
XM_024451334.1:c.-564-1507G>C	XP_024307102.1:n.-564-1507G>C
NM_014270.5:c.665G>C MANE Select	NP_055085.1:p.Ser222Thr
NM_001126335.2:c.665G>C	NP_001119807.1:p.Ser222Thr
NM_001243036.2:c.665G>C	NP_001229965.1:p.Ser222Thr