Canonical Allele Identifier: CA5547842
Gene: PSAP HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.71831868A>T
GRCh37 chr10:g.73591625A>T
Revel Score:
ENST00000394936 (MANE Select) 0.482
ENST00000373120 0.482
ENST00000357471 0.482
ENST00000394934 0.482
ENST00000394929 0.482
ENST00000404083 0.482
ENST00000394940 0.482
gnomAD v2:
10:73591625 A / T
gnomAD v3:
10:71831868 A / T
gnomAD v4:
chr10-71831868-A-T
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71831868A>T , CM000672.2:g.71831868A>T GRCh38
NC_000010.10:g.73591625A>T , CM000672.1:g.73591625A>T GRCh37
NC_000010.9:g.73261631A>T NCBI36
NG_009301.1:g.24458T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394936.8:c.227T>A MANE Select ENSP00000378394.3:p.Met76Lys
ENST00000394934.4:c.227T>A ENSP00000378392.2:p.Met76Lys
ENST00000394936.7:c.227T>A ENSP00000378394.3:p.Met76Lys
ENST00000610929.3:c.227T>A ENSP00000480857.1:p.Met76Lys
NM_001042465.1:c.227T>A NP_001035930.1:p.Met76Lys
NM_001042466.1:c.227T>A NP_001035931.1:p.Met76Lys
NM_002778.2:c.227T>A NP_002769.1:p.Met76Lys
NM_001042465.2:c.227T>A NP_001035930.1:p.Met76Lys
NM_001042466.2:c.227T>A NP_001035931.1:p.Met76Lys
NM_002778.3:c.227T>A NP_002769.1:p.Met76Lys
NM_002778.4:c.227T>A MANE Select NP_002769.1:p.Met76Lys
NM_001042465.3:c.227T>A NP_001035930.1:p.Met76Lys
NM_001042466.3:c.227T>A NP_001035931.1:p.Met76Lys
Search 100 bp 5'
Search 100 bp 3'