Canonical Allele Identifier: CA5547587
Gene: PSAP HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.71821910A>C
GRCh37 chr10:g.73581667A>C
Revel Score:
ENST00000394936 (MANE Select) 0.292
ENST00000373120 0.292
ENST00000357471 0.292
ENST00000394934 0.292
ENST00000404083 0.292
ENST00000394940 0.292
gnomAD v2:
10:73581667 A / C
gnomAD v3:
10:71821910 A / C
gnomAD v4:
chr10-71821910-A-C
Joint Max Group AF 0.00006762 (SAS)
Exomes Max Group AF 0.00006246 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71821910A>C , CM000672.2:g.71821910A>C GRCh38
NC_000010.10:g.73581667A>C , CM000672.1:g.73581667A>C GRCh37
NC_000010.9:g.73251673A>C NCBI36
NG_009301.1:g.34416T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394936.8:c.875T>G MANE Select ENSP00000378394.3:p.Val292Gly
ENST00000394934.4:c.884T>G ENSP00000378392.2:p.Val295Gly
ENST00000394936.7:c.875T>G ENSP00000378394.3:p.Val292Gly
ENST00000493143.1:n.296T>G
ENST00000610929.3:c.271-2127T>G ENSP00000480857.1:n.271-2127T>G
ENST00000633965.1:c.285T>G
NM_001042465.1:c.884T>G NP_001035930.1:p.Val295Gly
NM_001042466.1:c.881T>G NP_001035931.1:p.Val294Gly
NM_002778.2:c.875T>G NP_002769.1:p.Val292Gly
NM_001042465.2:c.884T>G NP_001035930.1:p.Val295Gly
NM_001042466.2:c.881T>G NP_001035931.1:p.Val294Gly
NM_002778.3:c.875T>G NP_002769.1:p.Val292Gly
NM_002778.4:c.875T>G MANE Select NP_002769.1:p.Val292Gly
NM_001042465.3:c.884T>G NP_001035930.1:p.Val295Gly
NM_001042466.3:c.881T>G NP_001035931.1:p.Val294Gly
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