Canonical Allele Identifier: CA5547598

Gene: PSAP

Linked Data

• ClinVar Variation Id: 300521
• ClinVar RCV Id: RCV000270227 ; RCV000310085 ; RCV000313643 ; RCV000362418 ; RCV001833439
• dbSNP Id: rs199672678
• ExAC: 10:73581744 C / T
• gnomAD v2: 10-73581744-C-T
• gnomAD v3: 10-71821987-C-T
• gnomAD v4: 10-71821987-C-T
• MyVariant Identifiers: chr10:g.73581744C>T (hg19) ; chr10:g.71821987C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71821987C>T , CM000672.2:g.71821987C>T	GRCh38
NC_000010.10:g.73581744C>T , CM000672.1:g.73581744C>T	GRCh37
NC_000010.9:g.73251750C>T	NCBI36
NG_009301.1:g.34339G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.798G>A MANE Select	ENSP00000378394.3:p.Ala266=
ENST00000394934.4:c.807G>A	ENSP00000378392.2:p.Ala269=
ENST00000394936.7:c.798G>A	ENSP00000378394.3:p.Ala266=
ENST00000493143.1:n.219G>A
ENST00000610929.3:c.271-2204G>A	ENSP00000480857.1:n.271-2204G>A
ENST00000633965.1:c.208G>A
NM_001042465.1:c.807G>A	NP_001035930.1:p.Ala269=
NM_001042466.1:c.804G>A	NP_001035931.1:p.Ala268=
NM_002778.2:c.798G>A	NP_002769.1:p.Ala266=
NM_001042465.2:c.807G>A	NP_001035930.1:p.Ala269=
NM_001042466.2:c.804G>A	NP_001035931.1:p.Ala268=
NM_002778.3:c.798G>A	NP_002769.1:p.Ala266=
NM_002778.4:c.798G>A MANE Select	NP_002769.1:p.Ala266=
NM_001042465.3:c.807G>A	NP_001035930.1:p.Ala269=
NM_001042466.3:c.804G>A	NP_001035931.1:p.Ala268=