Canonical Allele Identifier: CA2739275763

Gene: PSAP

Linked Data

• ClinVar Variation Id: 2877048
• ClinVar RCV Id: RCV003626455

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71831827C>T , CM000672.2:g.71831827C>T	GRCh38
NC_000010.10:g.73591584C>T , CM000672.1:g.73591584C>T	GRCh37
NC_000010.9:g.73261590C>T	NCBI36
NG_009301.1:g.24499G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.249+19G>A MANE Select	ENSP00000378394.3:n.249+19G>A
ENST00000394934.4:c.249+19G>A	ENSP00000378392.2:n.249+19G>A
ENST00000394936.7:c.249+19G>A	ENSP00000378394.3:n.249+19G>A
ENST00000610929.3:c.249+19G>A	ENSP00000480857.1:n.249+19G>A
NM_001042465.1:c.249+19G>A	NP_001035930.1:n.249+19G>A
NM_001042466.1:c.249+19G>A	NP_001035931.1:n.249+19G>A
NM_002778.2:c.249+19G>A	NP_002769.1:n.249+19G>A
NM_001042465.2:c.249+19G>A	NP_001035930.1:n.249+19G>A
NM_001042466.2:c.249+19G>A	NP_001035931.1:n.249+19G>A
NM_002778.3:c.249+19G>A	NP_002769.1:n.249+19G>A
NM_002778.4:c.249+19G>A MANE Select	NP_002769.1:n.249+19G>A
NM_001042465.3:c.249+19G>A	NP_001035930.1:n.249+19G>A
NM_001042466.3:c.249+19G>A	NP_001035931.1:n.249+19G>A