Canonical Allele Identifier: CA10635760
Gene: PSAP HGNC NCBI

Linked Data

ClinVar Variation Id: 300544
ClinVar RCV Id: RCV000304421 RCV000357989 RCV000361509 RCV000392509
dbSNP Id: rs534586960
gnomAD v3: 10-71851277-T-C
gnomAD v4: 10-71851277-T-C
MyVariant Identifiers: chr10:g.73611034T>C (hg19) chr10:g.71851277T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71851277T>C , CM000672.2:g.71851277T>C GRCh38
NC_000010.10:g.73611034T>C , CM000672.1:g.73611034T>C GRCh37
NC_000010.9:g.73281040T>C NCBI36
NG_009301.1:g.5049A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000394934.4:c.-56A>G ENSP00000378392.2:n.-56A>G
ENST00000394936.7:c.-56A>G ENSP00000378394.3:n.-56A>G
ENST00000610929.3:c.-56A>G ENSP00000480857.1:n.-56A>G
NM_001042465.1:c.-56A>G NP_001035930.1:n.-56A>G
NM_001042466.1:c.-56A>G NP_001035931.1:n.-56A>G
NM_002778.2:c.-56A>G NP_002769.1:n.-56A>G
NM_001042465.2:c.-56A>G NP_001035930.1:n.-56A>G
NM_001042466.2:c.-56A>G NP_001035931.1:n.-56A>G
NM_002778.3:c.-56A>G NP_002769.1:n.-56A>G
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