Canonical Allele Identifier: CA238576

Gene: GPR143

Linked Data

• ClinVar Variation Id: 193071
• ClinVar RCV Id: RCV000173094
• dbSNP Id: rs375563631
• ExAC: X:9733597 C / G
• gnomAD v2: X-9733597-C-G
• gnomAD v3: X-9765557-C-G
• gnomAD v4: X-9765557-C-G
• MyVariant Identifiers: chrX:g.9733597C>G (hg19) ; chrX:g.9765557C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.9765557C>G , CM000685.2:g.9765557C>G	GRCh38
NC_000023.10:g.9733597C>G , CM000685.1:g.9733597C>G	GRCh37
NC_000023.9:g.9693597C>G	NCBI36
NG_009074.1:g.5321G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000467482.6:c.250+11G>C MANE Select	ENSP00000417161.1:n.250+11G>C
ENST00000431126.1:c.-3+563G>C	ENSP00000406138.1:n.-3+563G>C
ENST00000447366.5:c.-2-4731G>C	ENSP00000390546.2:n.-2-4731G>C
ENST00000467482.5:c.250+11G>C	ENSP00000417161.1:n.250+11G>C
NM_000273.2:c.250+11G>C	NP_000264.2:n.250+11G>C
XM_005274541.2:c.250+11G>C	XP_005274598.1:n.250+11G>C
XM_005274541.3:c.250+11G>C	XP_005274598.1:n.250+11G>C
XM_024452387.1:c.-2-4731G>C	XP_024308155.1:n.-2-4731G>C
XM_024452388.1:c.-2-4731G>C	XP_024308156.1:n.-2-4731G>C
NM_000273.3:c.250+11G>C MANE Select	NP_000264.2:n.250+11G>C