Canonical Allele Identifier: CA5547944

Gene: PSAP

Linked Data

• ClinVar Variation Id: 444224
• ClinVar RCV Id: RCV000512836 ; RCV001087790 ; RCV001834647 ; RCV003960205
• dbSNP Id: rs574280149
• ExAC: 10:73610969 G / C
• gnomAD v2: 10-73610969-G-C
• gnomAD v3: 10-71851212-G-C
• gnomAD v4: 10-71851212-G-C
• MyVariant Identifiers: chr10:g.73610969G>C (hg19) ; chr10:g.71851212G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71851212G>C , CM000672.2:g.71851212G>C	GRCh38
NC_000010.10:g.73610969G>C , CM000672.1:g.73610969G>C	GRCh37
NC_000010.9:g.73280975G>C	NCBI36
NG_009301.1:g.5114C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.10C>G MANE Select	ENSP00000378394.3:p.Leu4Val
ENST00000394934.4:c.10C>G	ENSP00000378392.2:p.Leu4Val
ENST00000394936.7:c.10C>G	ENSP00000378394.3:p.Leu4Val
ENST00000610929.3:c.10C>G	ENSP00000480857.1:p.Leu4Val
NM_001042465.1:c.10C>G	NP_001035930.1:p.Leu4Val
NM_001042466.1:c.10C>G	NP_001035931.1:p.Leu4Val
NM_002778.2:c.10C>G	NP_002769.1:p.Leu4Val
NM_001042465.2:c.10C>G	NP_001035930.1:p.Leu4Val
NM_001042466.2:c.10C>G	NP_001035931.1:p.Leu4Val
NM_002778.3:c.10C>G	NP_002769.1:p.Leu4Val
NM_002778.4:c.10C>G MANE Select	NP_002769.1:p.Leu4Val
NM_001042465.3:c.10C>G	NP_001035930.1:p.Leu4Val
NM_001042466.3:c.10C>G	NP_001035931.1:p.Leu4Val