Canonical Allele Identifier: CA5547919
Gene: PSAP HGNC NCBI

Linked Data

ClinVar Variation Id: 1125655
ClinVar RCV Id: RCV001457458
dbSNP Id: rs778317867
ExAC: 10:73594249 C / T
gnomAD v2: 10-73594249-C-T
gnomAD v3: 10-71834492-C-T
gnomAD v4: 10-71834492-C-T
COSMIC: COSM4015639 COSM4015640
MyVariant Identifiers: chr10:g.73594249C>T (hg19) chr10:g.71834492C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71834492C>T , CM000672.2:g.71834492C>T GRCh38
NC_000010.10:g.73594249C>T , CM000672.1:g.73594249C>T GRCh37
NC_000010.9:g.73264255C>T NCBI36
NG_009301.1:g.21834G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394936.8:c.54G>A MANE Select ENSP00000378394.3:p.Pro18=
ENST00000394934.4:c.54G>A ENSP00000378392.2:p.Pro18=
ENST00000394936.7:c.54G>A ENSP00000378394.3:p.Pro18=
ENST00000610929.3:c.54G>A ENSP00000480857.1:p.Pro18=
NM_001042465.1:c.54G>A NP_001035930.1:p.Pro18=
NM_001042466.1:c.54G>A NP_001035931.1:p.Pro18=
NM_002778.2:c.54G>A NP_002769.1:p.Pro18=
NM_001042465.2:c.54G>A NP_001035930.1:p.Pro18=
NM_001042466.2:c.54G>A NP_001035931.1:p.Pro18=
NM_002778.3:c.54G>A NP_002769.1:p.Pro18=
NM_002778.4:c.54G>A MANE Select NP_002769.1:p.Pro18=
NM_001042465.3:c.54G>A NP_001035930.1:p.Pro18=
NM_001042466.3:c.54G>A NP_001035931.1:p.Pro18=
Search 100 bp 5'
Search 100 bp 3'