Canonical Allele Identifier: CA10636149

Gene: PSAP

Linked Data

• ClinVar Variation Id: 300528
• ClinVar RCV Id: RCV000268193 ; RCV000288083 ; RCV000323233 ; RCV000382490
• dbSNP Id: rs886047152
• gnomAD v2: 10-73591020-C-T
• gnomAD v3: 10-71831263-C-T
• gnomAD v4: 10-71831263-C-T
• MyVariant Identifiers: chr10:g.73591020C>T (hg19) ; chr10:g.71831263C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71831263C>T , CM000672.2:g.71831263C>T	GRCh38
NC_000010.10:g.73591020C>T , CM000672.1:g.73591020C>T	GRCh37
NC_000010.9:g.73261026C>T	NCBI36
NG_009301.1:g.25063G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.250-12G>A MANE Select	ENSP00000378394.3:n.250-12G>A
ENST00000394934.4:c.250-12G>A	ENSP00000378392.2:n.250-12G>A
ENST00000394936.7:c.250-12G>A	ENSP00000378394.3:n.250-12G>A
ENST00000610929.3:c.250-12G>A	ENSP00000480857.1:n.250-12G>A
NM_001042465.1:c.250-12G>A	NP_001035930.1:n.250-12G>A
NM_001042466.1:c.250-12G>A	NP_001035931.1:n.250-12G>A
NM_002778.2:c.250-12G>A	NP_002769.1:n.250-12G>A
NM_001042465.2:c.250-12G>A	NP_001035930.1:n.250-12G>A
NM_001042466.2:c.250-12G>A	NP_001035931.1:n.250-12G>A
NM_002778.3:c.250-12G>A	NP_002769.1:n.250-12G>A
NM_002778.4:c.250-12G>A MANE Select	NP_002769.1:n.250-12G>A
NM_001042465.3:c.250-12G>A	NP_001035930.1:n.250-12G>A
NM_001042466.3:c.250-12G>A	NP_001035931.1:n.250-12G>A