Canonical Allele Identifier: CA5547774

Gene: PSAP

Linked Data

• ClinVar Variation Id: 418428
• ClinVar RCV Id: RCV000484673 ; RCV001084808 ; RCV001335064 ; RCV001272680 ; RCV003902722
• dbSNP Id: rs377027316
• ExAC: 10:73588801 G / C
• gnomAD v2: 10-73588801-G-C
• gnomAD v3: 10-71829044-G-C
• gnomAD v4: 10-71829044-G-C
• MyVariant Identifiers: chr10:g.73588801G>C (hg19) ; chr10:g.71829044G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71829044G>C , CM000672.2:g.71829044G>C	GRCh38
NC_000010.10:g.73588801G>C , CM000672.1:g.73588801G>C	GRCh37
NC_000010.9:g.73258807G>C	NCBI36
NG_009301.1:g.27282C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.409C>G MANE Select	ENSP00000378394.3:p.Leu137Val
ENST00000394934.4:c.409C>G	ENSP00000378392.2:p.Leu137Val
ENST00000394936.7:c.409C>G	ENSP00000378394.3:p.Leu137Val
ENST00000610929.3:c.270+2187C>G	ENSP00000480857.1:n.270+2187C>G
NM_001042465.1:c.409C>G	NP_001035930.1:p.Leu137Val
NM_001042466.1:c.409C>G	NP_001035931.1:p.Leu137Val
NM_002778.2:c.409C>G	NP_002769.1:p.Leu137Val
NM_001042465.2:c.409C>G	NP_001035930.1:p.Leu137Val
NM_001042466.2:c.409C>G	NP_001035931.1:p.Leu137Val
NM_002778.3:c.409C>G	NP_002769.1:p.Leu137Val
NM_002778.4:c.409C>G MANE Select	NP_002769.1:p.Leu137Val
NM_001042465.3:c.409C>G	NP_001035930.1:p.Leu137Val
NM_001042466.3:c.409C>G	NP_001035931.1:p.Leu137Val