Canonical Allele Identifier: CA5547747

Gene: PSAP

Linked Data

• ClinVar Variation Id: 300525
• ClinVar RCV Id: RCV000291043 ; RCV000345936 ; RCV000391944 ; RCV000401145
• dbSNP Id: rs138880818
• ExAC: 10:73588653 C / T
• gnomAD v2: 10-73588653-C-T
• gnomAD v3: 10-71828896-C-T
• gnomAD v4: 10-71828896-C-T
• MyVariant Identifiers: chr10:g.73588653C>T (hg19) ; chr10:g.71828896C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71828896C>T , CM000672.2:g.71828896C>T	GRCh38
NC_000010.10:g.73588653C>T , CM000672.1:g.73588653C>T	GRCh37
NC_000010.9:g.73258659C>T	NCBI36
NG_009301.1:g.27430G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.557G>A MANE Select	ENSP00000378394.3:p.Arg186His
ENST00000394934.4:c.557G>A	ENSP00000378392.2:p.Arg186His
ENST00000394936.7:c.557G>A	ENSP00000378394.3:p.Arg186His
ENST00000610929.3:c.270+2335G>A	ENSP00000480857.1:n.270+2335G>A
NM_001042465.1:c.557G>A	NP_001035930.1:p.Arg186His
NM_001042466.1:c.557G>A	NP_001035931.1:p.Arg186His
NM_002778.2:c.557G>A	NP_002769.1:p.Arg186His
NM_001042465.2:c.557G>A	NP_001035930.1:p.Arg186His
NM_001042466.2:c.557G>A	NP_001035931.1:p.Arg186His
NM_002778.3:c.557G>A	NP_002769.1:p.Arg186His
NM_002778.4:c.557G>A MANE Select	NP_002769.1:p.Arg186His
NM_001042465.3:c.557G>A	NP_001035930.1:p.Arg186His
NM_001042466.3:c.557G>A	NP_001035931.1:p.Arg186His