Canonical Allele Identifier: CA377144688

Gene: PSAP

Linked Data

• ClinVar Variation Id: 2846277
• ClinVar RCV Id: RCV003628471
• MyVariant Identifiers: chr10:g.73579597C>A (hg19) ; chr10:g.71819840C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71819840C>A , CM000672.2:g.71819840C>A	GRCh38
NC_000010.10:g.73579597C>A , CM000672.1:g.73579597C>A	GRCh37
NC_000010.9:g.73249603C>A	NCBI36
NG_009301.1:g.36486G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.1066G>T MANE Select	ENSP00000378394.3:p.Glu356Ter
ENST00000394934.4:c.1075G>T	ENSP00000378392.2:p.Glu359Ter
ENST00000394936.7:c.1066G>T	ENSP00000378394.3:p.Glu356Ter
ENST00000493143.1:n.487G>T
ENST00000610929.3:c.271-57G>T	ENSP00000480857.1:n.271-57G>T
ENST00000633965.1:c.476G>T
NM_001042465.1:c.1075G>T	NP_001035930.1:p.Glu359Ter
NM_001042466.1:c.1072G>T	NP_001035931.1:p.Glu358Ter
NM_002778.2:c.1066G>T	NP_002769.1:p.Glu356Ter
NM_001042465.2:c.1075G>T	NP_001035930.1:p.Glu359Ter
NM_001042466.2:c.1072G>T	NP_001035931.1:p.Glu358Ter
NM_002778.3:c.1066G>T	NP_002769.1:p.Glu356Ter
NM_002778.4:c.1066G>T MANE Select	NP_002769.1:p.Glu356Ter
NM_001042465.3:c.1075G>T	NP_001035930.1:p.Glu359Ter
NM_001042466.3:c.1072G>T	NP_001035931.1:p.Glu358Ter