Canonical Allele Identifier: CA5547878
Gene: PSAP HGNC NCBI

Linked Data

ClinVar Variation Id: 300532
dbSNP Id: rs141133813

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71834363G>A , CM000672.2:g.71834363G>A GRCh38
NC_000010.10:g.73594120G>A , CM000672.1:g.73594120G>A GRCh37
NC_000010.9:g.73264126G>A NCBI36
NG_009301.1:g.21963C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000394936.8:c.174+9C>T MANE Select ENSP00000378394.3:p.=
ENST00000394934.4:c.174+9C>T ENSP00000378392.2:p.=
ENST00000394936.7:c.174+9C>T ENSP00000378394.3:p.=
ENST00000610929.3:c.174+9C>T ENSP00000480857.1:p.=
NM_001042465.1:c.174+9C>T NP_001035930.1:p.=
NM_001042466.1:c.174+9C>T NP_001035931.1:p.=
NM_002778.2:c.174+9C>T NP_002769.1:p.=
NM_001042465.2:c.174+9C>T NP_001035930.1:p.=
NM_001042466.2:c.174+9C>T NP_001035931.1:p.=
NM_002778.3:c.174+9C>T NP_002769.1:p.=
NM_002778.4:c.174+9C>T MANE Select NP_002769.1:p.=
NM_001042465.3:c.174+9C>T NP_001035930.1:p.=
NM_001042466.3:c.174+9C>T NP_001035931.1:p.=