Canonical Allele Identifier: CA123057

Gene: PSAP

Linked Data

• ClinVar Variation Id: 13363
• ClinVar RCV Id: RCV000588928 ; RCV004527289 ; RCV000014291
• dbSNP Id: rs121918104
• gnomAD v4: 10-71825892-C-G
• MyVariant Identifiers: chr10:g.73585649C>G (hg19) ; chr10:g.71825892C>G (hg38)
• PubMed: PMID:5288260 ; PMID:19955343

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71825892C>G , CM000672.2:g.71825892C>G	GRCh38
NC_000010.10:g.73585649C>G , CM000672.1:g.73585649C>G	GRCh37
NC_000010.9:g.73255655C>G	NCBI36
NG_009301.1:g.30434G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.722G>C MANE Select	ENSP00000378394.3:p.Cys241Ser
ENST00000394934.4:c.722G>C	ENSP00000378392.2:p.Cys241Ser
ENST00000394936.7:c.722G>C	ENSP00000378394.3:p.Cys241Ser
ENST00000610929.3:c.270+5339G>C	ENSP00000480857.1:n.270+5339G>C
ENST00000633965.1:c.123G>C
NM_001042465.1:c.722G>C	NP_001035930.1:p.Cys241Ser
NM_001042466.1:c.722G>C	NP_001035931.1:p.Cys241Ser
NM_002778.2:c.722G>C	NP_002769.1:p.Cys241Ser
NM_001042465.2:c.722G>C	NP_001035930.1:p.Cys241Ser
NM_001042466.2:c.722G>C	NP_001035931.1:p.Cys241Ser
NM_002778.3:c.722G>C	NP_002769.1:p.Cys241Ser
NM_002778.4:c.722G>C MANE Select	NP_002769.1:p.Cys241Ser
NM_001042465.3:c.722G>C	NP_001035930.1:p.Cys241Ser
NM_001042466.3:c.722G>C	NP_001035931.1:p.Cys241Ser