Canonical Allele Identifier: CA5547922

Gene: PSAP

Linked Data

• ClinVar Variation Id: 1114855
• ClinVar RCV Id: RCV001442719
• dbSNP Id: rs199808371
• ExAC: 10:73594255 G / A
• gnomAD v2: 10-73594255-G-A
• gnomAD v3: 10-71834498-G-A
• gnomAD v4: 10-71834498-G-A
• COSMIC: COSM427860 ; COSM4815948
• MyVariant Identifiers: chr10:g.73594255G>A (hg19) ; chr10:g.71834498G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71834498G>A , CM000672.2:g.71834498G>A	GRCh38
NC_000010.10:g.73594255G>A , CM000672.1:g.73594255G>A	GRCh37
NC_000010.9:g.73264261G>A	NCBI36
NG_009301.1:g.21828C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.48C>T MANE Select	ENSP00000378394.3:p.Ala16=
ENST00000394934.4:c.48C>T	ENSP00000378392.2:p.Ala16=
ENST00000394936.7:c.48C>T	ENSP00000378394.3:p.Ala16=
ENST00000610929.3:c.48C>T	ENSP00000480857.1:p.Ala16=
NM_001042465.1:c.48C>T	NP_001035930.1:p.Ala16=
NM_001042466.1:c.48C>T	NP_001035931.1:p.Ala16=
NM_002778.2:c.48C>T	NP_002769.1:p.Ala16=
NM_001042465.2:c.48C>T	NP_001035930.1:p.Ala16=
NM_001042466.2:c.48C>T	NP_001035931.1:p.Ala16=
NM_002778.3:c.48C>T	NP_002769.1:p.Ala16=
NM_002778.4:c.48C>T MANE Select	NP_002769.1:p.Ala16=
NM_001042465.3:c.48C>T	NP_001035930.1:p.Ala16=
NM_001042466.3:c.48C>T	NP_001035931.1:p.Ala16=