Canonical Allele Identifier: CA5547902
Gene: PSAP HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.71834434T>A
GRCh37 chr10:g.73594191T>A
Revel Score:
ENST00000394936 (MANE Select) 0.338
ENST00000373120 0.338
ENST00000357471 0.338
ENST00000394934 0.338
ENST00000394929 0.338
ENST00000404083 0.338
gnomAD v2:
10:73594191 T / A
gnomAD v3:
10:71834434 T / A
gnomAD v4:
chr10-71834434-T-A
Joint Max Group AF 0.00004264 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00004265 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71834434T>A , CM000672.2:g.71834434T>A GRCh38
NC_000010.10:g.73594191T>A , CM000672.1:g.73594191T>A GRCh37
NC_000010.9:g.73264197T>A NCBI36
NG_009301.1:g.21892A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394936.8:c.112A>T MANE Select ENSP00000378394.3:p.Thr38Ser
ENST00000394934.4:c.112A>T ENSP00000378392.2:p.Thr38Ser
ENST00000394936.7:c.112A>T ENSP00000378394.3:p.Thr38Ser
ENST00000610929.3:c.112A>T ENSP00000480857.1:p.Thr38Ser
NM_001042465.1:c.112A>T NP_001035930.1:p.Thr38Ser
NM_001042466.1:c.112A>T NP_001035931.1:p.Thr38Ser
NM_002778.2:c.112A>T NP_002769.1:p.Thr38Ser
NM_001042465.2:c.112A>T NP_001035930.1:p.Thr38Ser
NM_001042466.2:c.112A>T NP_001035931.1:p.Thr38Ser
NM_002778.3:c.112A>T NP_002769.1:p.Thr38Ser
NM_002778.4:c.112A>T MANE Select NP_002769.1:p.Thr38Ser
NM_001042465.3:c.112A>T NP_001035930.1:p.Thr38Ser
NM_001042466.3:c.112A>T NP_001035931.1:p.Thr38Ser
Search 100 bp 5'
Search 100 bp 3'