Canonical Allele Identifier: CA5547543

Gene: PSAP

Linked Data

• ClinVar Variation Id: 2902102
• ClinVar RCV Id: RCV003627309
• dbSNP Id: rs778093667
• ExAC: 10:73579985 A / G
• gnomAD v2: 10-73579985-A-G
• gnomAD v3: 10-71820228-A-G
• gnomAD v4: 10-71820228-A-G
• MyVariant Identifiers: chr10:g.73579985A>G (hg19) ; chr10:g.71820228A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71820228A>G , CM000672.2:g.71820228A>G	GRCh38
NC_000010.10:g.73579985A>G , CM000672.1:g.73579985A>G	GRCh37
NC_000010.9:g.73249991A>G	NCBI36
NG_009301.1:g.36098T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.1005+12T>C MANE Select	ENSP00000378394.3:n.1005+12T>C
ENST00000394934.4:c.1014+12T>C	ENSP00000378392.2:n.1014+12T>C
ENST00000394936.7:c.1005+12T>C	ENSP00000378394.3:n.1005+12T>C
ENST00000493143.1:n.426+12T>C
ENST00000610929.3:c.271-445T>C	ENSP00000480857.1:n.271-445T>C
ENST00000633965.1:c.415+12T>C
NM_001042465.1:c.1014+12T>C	NP_001035930.1:n.1014+12T>C
NM_001042466.1:c.1011+12T>C	NP_001035931.1:n.1011+12T>C
NM_002778.2:c.1005+12T>C	NP_002769.1:n.1005+12T>C
NM_001042465.2:c.1014+12T>C	NP_001035930.1:n.1014+12T>C
NM_001042466.2:c.1011+12T>C	NP_001035931.1:n.1011+12T>C
NM_002778.3:c.1005+12T>C	NP_002769.1:n.1005+12T>C
NM_002778.4:c.1005+12T>C MANE Select	NP_002769.1:n.1005+12T>C
NM_001042465.3:c.1014+12T>C	NP_001035930.1:n.1014+12T>C
NM_001042466.3:c.1011+12T>C	NP_001035931.1:n.1011+12T>C