Canonical Allele Identifier: CA123057
Gene: PSAP HGNC NCBI

Linked Data

ClinVar Variation Id: 13363
dbSNP Id: rs121918104

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