Canonical Allele Identifier: CA5547878

Gene: PSAP

Linked Data

• ClinVar Variation Id: 300532
• ClinVar RCV Id: RCV000307686 ; RCV000361163 ; RCV000362343 ; RCV000895393
• dbSNP Id: rs141133813
• ExAC: 10:73594120 G / A
• gnomAD v2: 10-73594120-G-A
• gnomAD v3: 10-71834363-G-A
• gnomAD v4: 10-71834363-G-A
• MyVariant Identifiers: chr10:g.73594120G>A (hg19) ; chr10:g.71834363G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71834363G>A , CM000672.2:g.71834363G>A	GRCh38
NC_000010.10:g.73594120G>A , CM000672.1:g.73594120G>A	GRCh37
NC_000010.9:g.73264126G>A	NCBI36
NG_009301.1:g.21963C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000394936.8:c.174+9C>T MANE Select	ENSP00000378394.3:n.174+9C>T
ENST00000394934.4:c.174+9C>T	ENSP00000378392.2:n.174+9C>T
ENST00000394936.7:c.174+9C>T	ENSP00000378394.3:n.174+9C>T
ENST00000610929.3:c.174+9C>T	ENSP00000480857.1:n.174+9C>T
NM_001042465.1:c.174+9C>T	NP_001035930.1:n.174+9C>T
NM_001042466.1:c.174+9C>T	NP_001035931.1:n.174+9C>T
NM_002778.2:c.174+9C>T	NP_002769.1:n.174+9C>T
NM_001042465.2:c.174+9C>T	NP_001035930.1:n.174+9C>T
NM_001042466.2:c.174+9C>T	NP_001035931.1:n.174+9C>T
NM_002778.3:c.174+9C>T	NP_002769.1:n.174+9C>T
NM_002778.4:c.174+9C>T MANE Select	NP_002769.1:n.174+9C>T
NM_001042465.3:c.174+9C>T	NP_001035930.1:n.174+9C>T
NM_001042466.3:c.174+9C>T	NP_001035931.1:n.174+9C>T