Canonical Allele Identifier: CA2609591278

Gene: PSAP

Linked Data

• ClinVar Variation Id: 2973865
• ClinVar RCV Id: RCV003833439
• gnomAD v4: 10-71819127-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71819127G>A , CM000672.2:g.71819127G>A	GRCh38
NC_000010.10:g.73578884G>A , CM000672.1:g.73578884G>A	GRCh37
NC_000010.9:g.73248890G>A	NCBI36
NG_009301.1:g.37199C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.1351-16C>T MANE Select	ENSP00000378394.3:n.1351-16C>T
ENST00000394934.4:c.1360-16C>T	ENSP00000378392.2:n.1360-16C>T
ENST00000394936.7:c.1351-16C>T	ENSP00000378394.3:n.1351-16C>T
ENST00000495196.1:n.145C>T
ENST00000610929.3:c.499-16C>T	ENSP00000480857.1:n.499-16C>T
NM_001042465.1:c.1360-16C>T	NP_001035930.1:n.1360-16C>T
NM_001042466.1:c.1357-16C>T	NP_001035931.1:n.1357-16C>T
NM_002778.2:c.1351-16C>T	NP_002769.1:n.1351-16C>T
NM_001042465.2:c.1360-16C>T	NP_001035930.1:n.1360-16C>T
NM_001042466.2:c.1357-16C>T	NP_001035931.1:n.1357-16C>T
NM_002778.3:c.1351-16C>T	NP_002769.1:n.1351-16C>T
NM_002778.4:c.1351-16C>T MANE Select	NP_002769.1:n.1351-16C>T
NM_001042465.3:c.1360-16C>T	NP_001035930.1:n.1360-16C>T
NM_001042466.3:c.1357-16C>T	NP_001035931.1:n.1357-16C>T