Canonical Allele Identifier: CA1918891022
Gene: PSAP HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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