Canonical Allele Identifier: CA1918890958
Gene: PSAP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71834273C= , CM000672.2:g.71834273C= GRCh38
NC_000010.10:g.73594030C= , CM000672.1:g.73594030C= GRCh37
NC_000010.9:g.73264036C= NCBI36
NG_009301.1:g.22053G=

Transcript Alleles

HGVS Amino-acid change
ENST00000394936.8:c.174+99G= MANE Select ENSP00000378394.3:n.174+99G=
ENST00000394934.4:c.174+99G= ENSP00000378392.2:n.174+99G=
ENST00000394936.7:c.174+99G= ENSP00000378394.3:n.174+99G=
ENST00000610929.3:c.174+99G= ENSP00000480857.1:n.174+99G=
NM_001042465.1:c.174+99G= NP_001035930.1:n.174+99G=
NM_001042466.1:c.174+99G= NP_001035931.1:n.174+99G=
NM_002778.2:c.174+99G= NP_002769.1:n.174+99G=
NM_001042465.2:c.174+99G= NP_001035930.1:n.174+99G=
NM_001042466.2:c.174+99G= NP_001035931.1:n.174+99G=
NM_002778.3:c.174+99G= NP_002769.1:n.174+99G=
NM_002778.4:c.174+99G= MANE Select NP_002769.1:n.174+99G=
NM_001042465.3:c.174+99G= NP_001035930.1:n.174+99G=
NM_001042466.3:c.174+99G= NP_001035931.1:n.174+99G=