Canonical Allele Identifier: CA10628841
Gene: PSAP HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.71817319G>C
GRCh37 chr10:g.73577076G>C
gnomAD v2:
10:73577076 G / C
gnomAD v3:
10:71817319 G / C
gnomAD v4:
chr10-71817319-G-C
Joint Max Group AF 0.00764055 (NFE)
Genomes Max Group AF 0.00759546 (NFE)
Exomes Max Group AF 0.00759311 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71817319G>C , CM000672.2:g.71817319G>C GRCh38
NC_000010.10:g.73577076G>C , CM000672.1:g.73577076G>C GRCh37
NC_000010.9:g.73247082G>C NCBI36
NG_008835.1:g.425373G>C
NG_009301.1:g.39007C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394936.8:c.*122C>G MANE Select ENSP00000378394.3:n.*122C>G
ENST00000394934.4:c.*122C>G ENSP00000378392.2:n.*122C>G
ENST00000394936.7:c.*122C>G ENSP00000378394.3:n.*122C>G
ENST00000610929.3:c.*122C>G ENSP00000480857.1:n.*122C>G
NM_001042465.1:c.*122C>G NP_001035930.1:n.*122C>G
NM_001042466.1:c.*122C>G NP_001035931.1:n.*122C>G
NM_002778.2:c.*122C>G NP_002769.1:n.*122C>G
NM_001042465.2:c.*122C>G NP_001035930.1:n.*122C>G
NM_001042466.2:c.*122C>G NP_001035931.1:n.*122C>G
NM_002778.3:c.*122C>G NP_002769.1:n.*122C>G
NM_002778.4:c.*122C>G MANE Select NP_002769.1:n.*122C>G
NM_001042465.3:c.*122C>G NP_001035930.1:n.*122C>G
NM_001042466.3:c.*122C>G NP_001035931.1:n.*122C>G
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