Canonical Allele Identifier: CA5547842

Gene: PSAP

Linked Data

• ClinVar Variation Id: 300529
• ClinVar RCV Id: RCV000294452 ; RCV000329512 ; RCV000349338 ; RCV000384126
• dbSNP Id: rs377024801
• ExAC: 10:73591625 A / T
• gnomAD v2: 10-73591625-A-T
• gnomAD v3: 10-71831868-A-T
• gnomAD v4: 10-71831868-A-T
• MyVariant Identifiers: chr10:g.73591625A>T (hg19) ; chr10:g.71831868A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71831868A>T , CM000672.2:g.71831868A>T	GRCh38
NC_000010.10:g.73591625A>T , CM000672.1:g.73591625A>T	GRCh37
NC_000010.9:g.73261631A>T	NCBI36
NG_009301.1:g.24458T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.227T>A MANE Select	ENSP00000378394.3:p.Met76Lys
ENST00000394934.4:c.227T>A	ENSP00000378392.2:p.Met76Lys
ENST00000394936.7:c.227T>A	ENSP00000378394.3:p.Met76Lys
ENST00000610929.3:c.227T>A	ENSP00000480857.1:p.Met76Lys
NM_001042465.1:c.227T>A	NP_001035930.1:p.Met76Lys
NM_001042466.1:c.227T>A	NP_001035931.1:p.Met76Lys
NM_002778.2:c.227T>A	NP_002769.1:p.Met76Lys
NM_001042465.2:c.227T>A	NP_001035930.1:p.Met76Lys
NM_001042466.2:c.227T>A	NP_001035931.1:p.Met76Lys
NM_002778.3:c.227T>A	NP_002769.1:p.Met76Lys
NM_002778.4:c.227T>A MANE Select	NP_002769.1:p.Met76Lys
NM_001042465.3:c.227T>A	NP_001035930.1:p.Met76Lys
NM_001042466.3:c.227T>A	NP_001035931.1:p.Met76Lys