Canonical Allele Identifier: CA5547926
Gene: PSAP HGNC NCBI

Linked Data

ClinVar Variation Id: 300538
dbSNP Id: rs138010978

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71834518C>G , CM000672.2:g.71834518C>G GRCh38
NC_000010.10:g.73594275C>G , CM000672.1:g.73594275C>G GRCh37
NC_000010.9:g.73264281C>G NCBI36
NG_009301.1:g.21808G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394936.8:c.41-13G>C MANE Select ENSP00000378394.3:n.41-13G>C
ENST00000394934.4:c.41-13G>C ENSP00000378392.2:n.41-13G>C
ENST00000394936.7:c.41-13G>C ENSP00000378394.3:n.41-13G>C
ENST00000610929.3:c.41-13G>C ENSP00000480857.1:n.41-13G>C
NM_001042465.1:c.41-13G>C NP_001035930.1:n.41-13G>C
NM_001042466.1:c.41-13G>C NP_001035931.1:n.41-13G>C
NM_002778.2:c.41-13G>C NP_002769.1:n.41-13G>C
NM_001042465.2:c.41-13G>C NP_001035930.1:n.41-13G>C
NM_001042466.2:c.41-13G>C NP_001035931.1:n.41-13G>C
NM_002778.3:c.41-13G>C NP_002769.1:n.41-13G>C
NM_002778.4:c.41-13G>C MANE Select NP_002769.1:n.41-13G>C
NM_001042465.3:c.41-13G>C NP_001035930.1:n.41-13G>C
NM_001042466.3:c.41-13G>C NP_001035931.1:n.41-13G>C