Canonical Allele Identifier: CA10344951

Gene: GPR143

Linked Data

• ClinVar Variation Id: 255712
• ClinVar RCV Id: RCV000249929 ; RCV001511112 ; RCV001701955 ; RCV001701887
• dbSNP Id: rs3788938
• ExAC: X:9711595 G / C
• gnomAD v2: X-9711595-G-C
• gnomAD v3: X-9743555-G-C
• gnomAD v4: X-9743555-G-C
• MyVariant Identifiers: chrX:g.9711595G>C (hg19) ; chrX:g.9743555G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.9743555G>C , CM000685.2:g.9743555G>C	GRCh38
NC_000023.10:g.9711595G>C , CM000685.1:g.9711595G>C	GRCh37
NC_000023.9:g.9671595G>C	NCBI36
NG_009074.1:g.27323C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467482.6:c.767+10C>G MANE Select	ENSP00000417161.1:n.767+10C>G
ENST00000447366.5:c.515+10C>G	ENSP00000390546.2:n.515+10C>G
ENST00000467482.5:c.767+10C>G	ENSP00000417161.1:n.767+10C>G
NM_000273.2:c.767+10C>G	NP_000264.2:n.767+10C>G
XM_005274541.2:c.767+10C>G	XP_005274598.1:n.767+10C>G
XM_005274541.3:c.767+10C>G	XP_005274598.1:n.767+10C>G
XM_024452387.1:c.515+10C>G	XP_024308155.1:n.515+10C>G
XM_024452388.1:c.515+10C>G	XP_024308156.1:n.515+10C>G
NM_000273.3:c.767+10C>G MANE Select	NP_000264.2:n.767+10C>G