Canonical Allele Identifier: CA10345089

Gene: GPR143

Linked Data

• dbSNP Id: rs763020179
• ExAC: X:9733656 C / A
• gnomAD v2: X-9733656-C-A
• gnomAD v3: X-9765616-C-A
• gnomAD v4: X-9765616-C-A
• MyVariant Identifiers: chrX:g.9733656C>A (hg19) ; chrX:g.9765616C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.9765616C>A , CM000685.2:g.9765616C>A	GRCh38
NC_000023.10:g.9733656C>A , CM000685.1:g.9733656C>A	GRCh37
NC_000023.9:g.9693656C>A	NCBI36
NG_009074.1:g.5262G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000467482.6:c.202G>T MANE Select	ENSP00000417161.1:p.Val68Phe
ENST00000431126.1:c.-3+504G>T	ENSP00000406138.1:n.-3+504G>T
ENST00000447366.5:c.-2-4790G>T	ENSP00000390546.2:n.-2-4790G>T
ENST00000467482.5:c.202G>T	ENSP00000417161.1:p.Val68Phe
NM_000273.2:c.202G>T	NP_000264.2:p.Val68Phe
XM_005274541.2:c.202G>T	XP_005274598.1:p.Val68Phe
XM_005274541.3:c.202G>T	XP_005274598.1:p.Val68Phe
XM_024452387.1:c.-2-4790G>T	XP_024308155.1:n.-2-4790G>T
XM_024452388.1:c.-2-4790G>T	XP_024308156.1:n.-2-4790G>T
NM_000273.3:c.202G>T MANE Select	NP_000264.2:p.Val68Phe