Canonical Allele Identifier: CA15024071
Gene: GPR143 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.9783434T>C
GRCh37 chrX:g.9751474T>C
gnomAD v2:
X:9751474 T / C
gnomAD v3:
X:9783434 T / C
gnomAD v4:
chrX-9783434-T-C
Joint Max Group AF 0.65187901 (NFE)
Genomes Max Group AF 0.65187901 (NFE)
dbSNP:
5934683
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.9783434T>C , CM000685.2:g.9783434T>C GRCh38
NC_000023.10:g.9751474T>C , CM000685.1:g.9751474T>C GRCh37
NC_000023.9:g.9711474T>C NCBI36
NG_012493.1:g.1979T>C
NG_012493.2:g.1979T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000447366.5:c.-3+2808A>G ENSP00000390546.2:n.-3+2808A>G
XM_024452387.1:c.-3+2791A>G XP_024308155.1:n.-3+2791A>G
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