Canonical Allele Identifier: CA377154031

Gene: PSAP

Linked Data

• ClinVar Variation Id: 521912
• ClinVar RCV Id: RCV000624741 ; RCV001731817
• dbSNP Id: rs1554881272
• MyVariant Identifiers: chr10:g.73591001A>T (hg19) ; chr10:g.71831244A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71831244A>T , CM000672.2:g.71831244A>T	GRCh38
NC_000010.10:g.73591001A>T , CM000672.1:g.73591001A>T	GRCh37
NC_000010.9:g.73261007A>T	NCBI36
NG_009301.1:g.25082T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.257T>A MANE Select	ENSP00000378394.3:p.Ile86Asn
ENST00000394934.4:c.257T>A	ENSP00000378392.2:p.Ile86Asn
ENST00000394936.7:c.257T>A	ENSP00000378394.3:p.Ile86Asn
ENST00000610929.3:c.257T>A	ENSP00000480857.1:p.Ile86Asn
NM_001042465.1:c.257T>A	NP_001035930.1:p.Ile86Asn
NM_001042466.1:c.257T>A	NP_001035931.1:p.Ile86Asn
NM_002778.2:c.257T>A	NP_002769.1:p.Ile86Asn
NM_001042465.2:c.257T>A	NP_001035930.1:p.Ile86Asn
NM_001042466.2:c.257T>A	NP_001035931.1:p.Ile86Asn
NM_002778.3:c.257T>A	NP_002769.1:p.Ile86Asn
NM_002778.4:c.257T>A MANE Select	NP_002769.1:p.Ile86Asn
NM_001042465.3:c.257T>A	NP_001035930.1:p.Ile86Asn
NM_001042466.3:c.257T>A	NP_001035931.1:p.Ile86Asn