Canonical Allele Identifier: CA5547881
Gene: PSAP HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.71834379G>C
GRCh37 chr10:g.73594136G>C
Revel Score:
ENST00000394936 (MANE Select) 0.692
ENST00000373120 0.692
ENST00000357471 0.692
ENST00000394934 0.692
ENST00000394929 0.692
ENST00000404083 0.692
gnomAD v2:
10:73594136 G / C
gnomAD v3:
10:71834379 G / C
gnomAD v4:
chr10-71834379-G-C
Joint Max Group AF 0.00015022 (NFE)
Genomes Max Group AF 0.00004765 (NFE)
Exomes Max Group AF 0.00015319 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71834379G>C , CM000672.2:g.71834379G>C GRCh38
NC_000010.10:g.73594136G>C , CM000672.1:g.73594136G>C GRCh37
NC_000010.9:g.73264142G>C NCBI36
NG_009301.1:g.21947C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394936.8:c.167C>G MANE Select ENSP00000378394.3:p.Pro56Arg
ENST00000394934.4:c.167C>G ENSP00000378392.2:p.Pro56Arg
ENST00000394936.7:c.167C>G ENSP00000378394.3:p.Pro56Arg
ENST00000610929.3:c.167C>G ENSP00000480857.1:p.Pro56Arg
NM_001042465.1:c.167C>G NP_001035930.1:p.Pro56Arg
NM_001042466.1:c.167C>G NP_001035931.1:p.Pro56Arg
NM_002778.2:c.167C>G NP_002769.1:p.Pro56Arg
NM_001042465.2:c.167C>G NP_001035930.1:p.Pro56Arg
NM_001042466.2:c.167C>G NP_001035931.1:p.Pro56Arg
NM_002778.3:c.167C>G NP_002769.1:p.Pro56Arg
NM_002778.4:c.167C>G MANE Select NP_002769.1:p.Pro56Arg
NM_001042465.3:c.167C>G NP_001035930.1:p.Pro56Arg
NM_001042466.3:c.167C>G NP_001035931.1:p.Pro56Arg
Search 100 bp 5'
Search 100 bp 3'