Canonical Allele Identifier: CA5547906
Gene: PSAP HGNC NCBI

Linked Data

ClinVar Variation Id: 300536
dbSNP Id: rs144942998

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71834458C>A , CM000672.2:g.71834458C>A GRCh38
NC_000010.10:g.73594215C>A , CM000672.1:g.73594215C>A GRCh37
NC_000010.9:g.73264221C>A NCBI36
NG_009301.1:g.21868G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394936.8:c.88G>T MANE Select ENSP00000378394.3:p.Ala30Ser
ENST00000394934.4:c.88G>T ENSP00000378392.2:p.Ala30Ser
ENST00000394936.7:c.88G>T ENSP00000378394.3:p.Ala30Ser
ENST00000610929.3:c.88G>T ENSP00000480857.1:p.Ala30Ser
NM_001042465.1:c.88G>T NP_001035930.1:p.Ala30Ser
NM_001042466.1:c.88G>T NP_001035931.1:p.Ala30Ser
NM_002778.2:c.88G>T NP_002769.1:p.Ala30Ser
NM_001042465.2:c.88G>T NP_001035930.1:p.Ala30Ser
NM_001042466.2:c.88G>T NP_001035931.1:p.Ala30Ser
NM_002778.3:c.88G>T NP_002769.1:p.Ala30Ser
NM_002778.4:c.88G>T MANE Select NP_002769.1:p.Ala30Ser
NM_001042465.3:c.88G>T NP_001035930.1:p.Ala30Ser
NM_001042466.3:c.88G>T NP_001035931.1:p.Ala30Ser