Canonical Allele Identifier: CA10636150

Gene: PSAP

Linked Data

• ClinVar Variation Id: 300539
• ClinVar RCV Id: RCV000283508 ; RCV000318811 ; RCV000343158 ; RCV000378161
• dbSNP Id: rs886047153
• gnomAD v2: 10-73610927-C-T
• gnomAD v3: 10-71851170-C-T
• gnomAD v4: 10-71851170-C-T
• MyVariant Identifiers: chr10:g.73610927C>T (hg19) ; chr10:g.71851170C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71851170C>T , CM000672.2:g.71851170C>T	GRCh38
NC_000010.10:g.73610927C>T , CM000672.1:g.73610927C>T	GRCh37
NC_000010.9:g.73280933C>T	NCBI36
NG_009301.1:g.5156G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.40+12G>A MANE Select	ENSP00000378394.3:n.40+12G>A
ENST00000394934.4:c.40+12G>A	ENSP00000378392.2:n.40+12G>A
ENST00000394936.7:c.40+12G>A	ENSP00000378394.3:n.40+12G>A
ENST00000610929.3:c.40+12G>A	ENSP00000480857.1:n.40+12G>A
NM_001042465.1:c.40+12G>A	NP_001035930.1:n.40+12G>A
NM_001042466.1:c.40+12G>A	NP_001035931.1:n.40+12G>A
NM_002778.2:c.40+12G>A	NP_002769.1:n.40+12G>A
NM_001042465.2:c.40+12G>A	NP_001035930.1:n.40+12G>A
NM_001042466.2:c.40+12G>A	NP_001035931.1:n.40+12G>A
NM_002778.3:c.40+12G>A	NP_002769.1:n.40+12G>A
NM_002778.4:c.40+12G>A MANE Select	NP_002769.1:n.40+12G>A
NM_001042465.3:c.40+12G>A	NP_001035930.1:n.40+12G>A
NM_001042466.3:c.40+12G>A	NP_001035931.1:n.40+12G>A