Canonical Allele Identifier: CA5547512

Gene: PSAP

Linked Data

• ClinVar Variation Id: 300517
• ClinVar RCV Id: RCV000273320 ; RCV000325945 ; RCV000365539 ; RCV000382922
• dbSNP Id: rs544300820
• ExAC: 10:73579651 T / C
• gnomAD v2: 10-73579651-T-C
• gnomAD v3: 10-71819894-T-C
• gnomAD v4: 10-71819894-T-C
• MyVariant Identifiers: chr10:g.73579651T>C (hg19) ; chr10:g.71819894T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71819894T>C , CM000672.2:g.71819894T>C	GRCh38
NC_000010.10:g.73579651T>C , CM000672.1:g.73579651T>C	GRCh37
NC_000010.9:g.73249657T>C	NCBI36
NG_009301.1:g.36432A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.1012A>G MANE Select	ENSP00000378394.3:p.Ile338Val
ENST00000394934.4:c.1021A>G	ENSP00000378392.2:p.Ile341Val
ENST00000394936.7:c.1012A>G	ENSP00000378394.3:p.Ile338Val
ENST00000493143.1:n.433A>G
ENST00000610929.3:c.271-111A>G	ENSP00000480857.1:n.271-111A>G
ENST00000633965.1:c.422A>G
NM_001042465.1:c.1021A>G	NP_001035930.1:p.Ile341Val
NM_001042466.1:c.1018A>G	NP_001035931.1:p.Ile340Val
NM_002778.2:c.1012A>G	NP_002769.1:p.Ile338Val
NM_001042465.2:c.1021A>G	NP_001035930.1:p.Ile341Val
NM_001042466.2:c.1018A>G	NP_001035931.1:p.Ile340Val
NM_002778.3:c.1012A>G	NP_002769.1:p.Ile338Val
NM_002778.4:c.1012A>G MANE Select	NP_002769.1:p.Ile338Val
NM_001042465.3:c.1021A>G	NP_001035930.1:p.Ile341Val
NM_001042466.3:c.1018A>G	NP_001035931.1:p.Ile340Val