Canonical Allele Identifier: CA412000756

Gene: GPR143

Linked Data

• ClinVar Variation Id: 2012512
• ClinVar RCV Id: RCV002856246
• gnomAD v4: X-9765720-C-A
• MyVariant Identifiers: chrX:g.9733760C>A (hg19) ; chrX:g.9765720C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.9765720C>A , CM000685.2:g.9765720C>A	GRCh38
NC_000023.10:g.9733760C>A , CM000685.1:g.9733760C>A	GRCh37
NC_000023.9:g.9693760C>A	NCBI36
NG_009074.1:g.5158G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000467482.6:c.98G>T MANE Select	ENSP00000417161.1:p.Cys33Phe
ENST00000431126.1:c.-3+400G>T	ENSP00000406138.1:n.-3+400G>T
ENST00000447366.5:c.-2-4894G>T	ENSP00000390546.2:n.-2-4894G>T
ENST00000467482.5:c.98G>T	ENSP00000417161.1:p.Cys33Phe
NM_000273.2:c.98G>T	NP_000264.2:p.Cys33Phe
XM_005274541.2:c.98G>T	XP_005274598.1:p.Cys33Phe
XM_005274541.3:c.98G>T	XP_005274598.1:p.Cys33Phe
XM_024452387.1:c.-2-4894G>T	XP_024308155.1:n.-2-4894G>T
XM_024452388.1:c.-2-4894G>T	XP_024308156.1:n.-2-4894G>T
NM_000273.3:c.98G>T MANE Select	NP_000264.2:p.Cys33Phe