Canonical Allele Identifier: CA226190

Gene: GPR143

Linked Data

• ClinVar Variation Id: 10518
• ClinVar RCV Id: RCV000011264 ; RCV000084940
• dbSNP Id: rs137852297
• gnomAD v4: X-9743637-G-T
• MyVariant Identifiers: chrX:g.9711677G>T (hg19) ; chrX:g.9743637G>T (hg38)
• PubMed: PMID:9529334

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.9743637G>T , CM000685.2:g.9743637G>T	GRCh38
NC_000023.10:g.9711677G>T , CM000685.1:g.9711677G>T	GRCh37
NC_000023.9:g.9671677G>T	NCBI36
NG_009074.1:g.27241C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000467482.6:c.695C>A MANE Select	ENSP00000417161.1:p.Thr232Lys
ENST00000431126.1:c.443C>A	ENSP00000406138.1:p.Thr148Lys
ENST00000447366.5:c.443C>A	ENSP00000390546.2:p.Thr148Lys
ENST00000467482.5:c.695C>A	ENSP00000417161.1:p.Thr232Lys
NM_000273.2:c.695C>A	NP_000264.2:p.Thr232Lys
XM_005274541.2:c.695C>A	XP_005274598.1:p.Thr232Lys
XM_005274541.3:c.695C>A	XP_005274598.1:p.Thr232Lys
XM_024452387.1:c.443C>A	XP_024308155.1:p.Thr148Lys
XM_024452388.1:c.443C>A	XP_024308156.1:p.Thr148Lys
NM_000273.3:c.695C>A MANE Select	NP_000264.2:p.Thr232Lys