Canonical Allele Identifier: CA5547418
Gene: PSAP HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.71819554G>A
GRCh37 chr10:g.73579311G>A
Revel Score:
ENST00000394936 (MANE Select) 0.248
ENST00000373120 0.248
ENST00000357471 0.248
ENST00000394934 0.248
ENST00000394929 0.248
ENST00000404083 0.248
ENST00000394940 0.248
gnomAD v2:
10:73579311 G / A
gnomAD v3:
10:71819554 G / A
gnomAD v4:
chr10-71819554-G-A
Joint Max Group AF 0.00002863 (SAS)
Exomes Max Group AF 0.00002194 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71819554G>A , CM000672.2:g.71819554G>A GRCh38
NC_000010.10:g.73579311G>A , CM000672.1:g.73579311G>A GRCh37
NC_000010.9:g.73249317G>A NCBI36
NG_009301.1:g.36772C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394936.8:c.1261C>T MANE Select ENSP00000378394.3:p.Arg421Cys
ENST00000394934.4:c.1270C>T ENSP00000378392.2:p.Arg424Cys
ENST00000394936.7:c.1261C>T ENSP00000378394.3:p.Arg421Cys
ENST00000610929.3:c.409C>T ENSP00000480857.1:p.Arg137Cys
NM_001042465.1:c.1270C>T NP_001035930.1:p.Arg424Cys
NM_001042466.1:c.1267C>T NP_001035931.1:p.Arg423Cys
NM_002778.2:c.1261C>T NP_002769.1:p.Arg421Cys
NM_001042465.2:c.1270C>T NP_001035930.1:p.Arg424Cys
NM_001042466.2:c.1267C>T NP_001035931.1:p.Arg423Cys
NM_002778.3:c.1261C>T NP_002769.1:p.Arg421Cys
NM_002778.4:c.1261C>T MANE Select NP_002769.1:p.Arg421Cys
NM_001042465.3:c.1270C>T NP_001035930.1:p.Arg424Cys
NM_001042466.3:c.1267C>T NP_001035931.1:p.Arg423Cys
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