Canonical Allele Identifier: CA123065
Gene: PSAP HGNC NCBI

Linked Data

ClinVar Variation Id: 13370
ClinVar RCV Id: RCV000014299
dbSNP Id: rs121918108
MyVariant Identifiers: chr10:g.73579519A>C (hg19) chr10:g.71819762A>C (hg38)
PubMed: PMID:2615292 PMID:8460394 PMID:15856305
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71819762A>C , CM000672.2:g.71819762A>C GRCh38
NC_000010.10:g.73579519A>C , CM000672.1:g.73579519A>C GRCh37
NC_000010.9:g.73249525A>C NCBI36
NG_009301.1:g.36564T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000394936.8:c.1144T>G MANE Select ENSP00000378394.3:p.Cys382Gly
ENST00000394934.4:c.1153T>G ENSP00000378392.2:p.Cys385Gly
ENST00000394936.7:c.1144T>G ENSP00000378394.3:p.Cys382Gly
ENST00000493143.1:n.565T>G
ENST00000610929.3:c.292T>G ENSP00000480857.1:p.Cys98Gly
NM_001042465.1:c.1153T>G NP_001035930.1:p.Cys385Gly
NM_001042466.1:c.1150T>G NP_001035931.1:p.Cys384Gly
NM_002778.2:c.1144T>G NP_002769.1:p.Cys382Gly
NM_001042465.2:c.1153T>G NP_001035930.1:p.Cys385Gly
NM_001042466.2:c.1150T>G NP_001035931.1:p.Cys384Gly
NM_002778.3:c.1144T>G NP_002769.1:p.Cys382Gly
NM_002778.4:c.1144T>G MANE Select NP_002769.1:p.Cys382Gly
NM_001042465.3:c.1153T>G NP_001035930.1:p.Cys385Gly
NM_001042466.3:c.1150T>G NP_001035931.1:p.Cys384Gly
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