Canonical Allele Identifier: CA123063
Gene: PSAP HGNC NCBI

Linked Data

ClinVar Variation Id: 13367
ClinVar RCV Id: RCV000014296 RCV003398506
dbSNP Id: rs121918107
gnomAD v4: 10-71828091-T-G
MyVariant Identifiers: chr10:g.73587848T>G (hg19) chr10:g.71828091T>G (hg38)
PubMed: PMID:10682309 PMID:17561962
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71828091T>G , CM000672.2:g.71828091T>G GRCh38
NC_000010.10:g.73587848T>G , CM000672.1:g.73587848T>G GRCh37
NC_000010.9:g.73257854T>G NCBI36
NG_009301.1:g.28235A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000394936.8:c.643A>C MANE Select ENSP00000378394.3:p.Asn215His
ENST00000394934.4:c.643A>C ENSP00000378392.2:p.Asn215His
ENST00000394936.7:c.643A>C ENSP00000378394.3:p.Asn215His
ENST00000610929.3:c.270+3140A>C ENSP00000480857.1:n.270+3140A>C
ENST00000633965.1:c.44A>C
NM_001042465.1:c.643A>C NP_001035930.1:p.Asn215His
NM_001042466.1:c.643A>C NP_001035931.1:p.Asn215His
NM_002778.2:c.643A>C NP_002769.1:p.Asn215His
NM_001042465.2:c.643A>C NP_001035930.1:p.Asn215His
NM_001042466.2:c.643A>C NP_001035931.1:p.Asn215His
NM_002778.3:c.643A>C NP_002769.1:p.Asn215His
NM_002778.4:c.643A>C MANE Select NP_002769.1:p.Asn215His
NM_001042465.3:c.643A>C NP_001035930.1:p.Asn215His
NM_001042466.3:c.643A>C NP_001035931.1:p.Asn215His
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