Canonical Allele Identifier: CA123059

Gene: PSAP

Linked Data

• ClinVar Variation Id: 13364
• ClinVar RCV Id: RCV000014292
• dbSNP Id: rs121918105
• MyVariant Identifiers: chr10:g.73579518C>A (hg19) ; chr10:g.71819761C>A (hg38)
• PubMed: PMID:2060627 ; PMID:3024666

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71819761C>A , CM000672.2:g.71819761C>A	GRCh38
NC_000010.10:g.73579518C>A , CM000672.1:g.73579518C>A	GRCh37
NC_000010.9:g.73249524C>A	NCBI36
NG_009301.1:g.36565G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.1145G>T MANE Select	ENSP00000378394.3:p.Cys382Phe
ENST00000394934.4:c.1154G>T	ENSP00000378392.2:p.Cys385Phe
ENST00000394936.7:c.1145G>T	ENSP00000378394.3:p.Cys382Phe
ENST00000493143.1:n.566G>T
ENST00000610929.3:c.293G>T	ENSP00000480857.1:p.Cys98Phe
NM_001042465.1:c.1154G>T	NP_001035930.1:p.Cys385Phe
NM_001042466.1:c.1151G>T	NP_001035931.1:p.Cys384Phe
NM_002778.2:c.1145G>T	NP_002769.1:p.Cys382Phe
NM_001042465.2:c.1154G>T	NP_001035930.1:p.Cys385Phe
NM_001042466.2:c.1151G>T	NP_001035931.1:p.Cys384Phe
NM_002778.3:c.1145G>T	NP_002769.1:p.Cys382Phe
NM_002778.4:c.1145G>T MANE Select	NP_002769.1:p.Cys382Phe
NM_001042465.3:c.1154G>T	NP_001035930.1:p.Cys385Phe
NM_001042466.3:c.1151G>T	NP_001035931.1:p.Cys384Phe