Canonical Allele Identifier: CA5547287
Gene: PSAP HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.71817432T>C
GRCh37 chr10:g.73577189T>C
gnomAD v2:
10:73577189 T / C
gnomAD v3:
10:71817432 T / C
gnomAD v4:
chr10-71817432-T-C
Joint Max Group AF 0.00014352 (AFR)
Genomes Max Group AF 0.00014829 (AFR)
Exomes Max Group AF 0.00007713 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71817432T>C , CM000672.2:g.71817432T>C GRCh38
NC_000010.10:g.73577189T>C , CM000672.1:g.73577189T>C GRCh37
NC_000010.9:g.73247195T>C NCBI36
NG_008835.1:g.425486T>C
NG_009301.1:g.38894A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394936.8:c.*9A>G MANE Select ENSP00000378394.3:n.*9A>G
ENST00000394934.4:c.*9A>G ENSP00000378392.2:n.*9A>G
ENST00000394936.7:c.*9A>G ENSP00000378394.3:n.*9A>G
ENST00000610929.3:c.*9A>G ENSP00000480857.1:n.*9A>G
NM_001042465.1:c.*9A>G NP_001035930.1:n.*9A>G
NM_001042466.1:c.*9A>G NP_001035931.1:n.*9A>G
NM_002778.2:c.*9A>G NP_002769.1:n.*9A>G
NM_001042465.2:c.*9A>G NP_001035930.1:n.*9A>G
NM_001042466.2:c.*9A>G NP_001035931.1:n.*9A>G
NM_002778.3:c.*9A>G NP_002769.1:n.*9A>G
NM_002778.4:c.*9A>G MANE Select NP_002769.1:n.*9A>G
NM_001042465.3:c.*9A>G NP_001035930.1:n.*9A>G
NM_001042466.3:c.*9A>G NP_001035931.1:n.*9A>G
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