Canonical Allele Identifier: CA209472135

Gene: PSAP

Linked Data

• ClinVar Variation Id: 1442678
• ClinVar RCV Id: RCV001960333
• dbSNP Id: rs920658754
• gnomAD v4: 10-71834494-G-C
• MyVariant Identifiers: chr10:g.73594251G>C (hg19) ; chr10:g.71834494G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71834494G>C , CM000672.2:g.71834494G>C	GRCh38
NC_000010.10:g.73594251G>C , CM000672.1:g.73594251G>C	GRCh37
NC_000010.9:g.73264257G>C	NCBI36
NG_009301.1:g.21832C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.52C>G MANE Select	ENSP00000378394.3:p.Pro18Ala
ENST00000394934.4:c.52C>G	ENSP00000378392.2:p.Pro18Ala
ENST00000394936.7:c.52C>G	ENSP00000378394.3:p.Pro18Ala
ENST00000610929.3:c.52C>G	ENSP00000480857.1:p.Pro18Ala
NM_001042465.1:c.52C>G	NP_001035930.1:p.Pro18Ala
NM_001042466.1:c.52C>G	NP_001035931.1:p.Pro18Ala
NM_002778.2:c.52C>G	NP_002769.1:p.Pro18Ala
NM_001042465.2:c.52C>G	NP_001035930.1:p.Pro18Ala
NM_001042466.2:c.52C>G	NP_001035931.1:p.Pro18Ala
NM_002778.3:c.52C>G	NP_002769.1:p.Pro18Ala
NM_002778.4:c.52C>G MANE Select	NP_002769.1:p.Pro18Ala
NM_001042465.3:c.52C>G	NP_001035930.1:p.Pro18Ala
NM_001042466.3:c.52C>G	NP_001035931.1:p.Pro18Ala