Canonical Allele Identifier: CA10485590

Gene: PRPS1

Linked Data

• dbSNP Id: rs370316413
• ExAC: X:106882478 T / C
• gnomAD v2: X-106882478-T-C
• gnomAD v4: X-107639248-T-C
• MyVariant Identifiers: chrX:g.106882478T>C (hg19) ; chrX:g.107639248T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107639248T>C , CM000685.2:g.107639248T>C	GRCh38
NC_000023.10:g.106882478T>C , CM000685.1:g.106882478T>C	GRCh37
NC_000023.9:g.106769134T>C	NCBI36
NG_008407.1:g.15825T>C , LRG_264:g.15825T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372418.4:c.123-47T>C	ENSP00000361495.2:n.123-47T>C
ENST00000372435.10:c.123-47T>C MANE Select	ENSP00000361512.4:n.123-47T>C
ENST00000643795.2:c.123-47T>C	ENSP00000496286.1:n.123-47T>C
ENST00000644642.1:c.123-5929T>C	ENSP00000495493.1:n.123-5929T>C
ENST00000645638.1:c.*92-47T>C	ENSP00000496554.1:n.*92-47T>C
ENST00000645903.1:n.217-47T>C
ENST00000674525.1:n.208-47T>C
ENST00000674826.1:c.123-1654T>C	ENSP00000502278.1:n.123-1654T>C
ENST00000674843.1:c.225-47T>C	ENSP00000502260.1:n.225-47T>C
ENST00000675304.1:n.56-47T>C
ENST00000676092.1:c.123-47T>C	ENSP00000502780.1:n.123-47T>C
ENST00000372419.3:c.123-47T>C	ENSP00000361496.3:n.123-47T>C
ENST00000372428.8:c.-82-5929T>C	ENSP00000361505.5:n.-82-5929T>C
ENST00000372435.8:c.123-47T>C	ENSP00000361512.4:n.123-47T>C
NM_001204402.1:c.-82-5929T>C	NP_001191331.1:n.-82-5929T>C
NM_002764.3:c.123-47T>C , LRG_264t1:c.123-47T>C	NP_002755.1:n.123-47T>C
NM_002764.4:c.123-47T>C MANE Select	NP_002755.1:n.123-47T>C
NM_001204402.2:c.-82-5929T>C	NP_001191331.1:n.-82-5929T>C