Canonical Allele Identifier: CA10628841

Gene: PSAP

Linked Data

• ClinVar Variation Id: 300503
• ClinVar RCV Id: RCV000267855 ; RCV000298428 ; RCV000360087 ; RCV000390908 ; RCV001556327
• dbSNP Id: rs113284884
• gnomAD v2: 10-73577076-G-C
• gnomAD v3: 10-71817319-G-C
• gnomAD v4: 10-71817319-G-C
• MyVariant Identifiers: chr10:g.73577076G>C (hg19) ; chr10:g.71817319G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71817319G>C , CM000672.2:g.71817319G>C	GRCh38
NC_000010.10:g.73577076G>C , CM000672.1:g.73577076G>C	GRCh37
NC_000010.9:g.73247082G>C	NCBI36
NG_008835.1:g.425373G>C
NG_009301.1:g.39007C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.*122C>G MANE Select	ENSP00000378394.3:n.*122C>G
ENST00000394934.4:c.*122C>G	ENSP00000378392.2:n.*122C>G
ENST00000394936.7:c.*122C>G	ENSP00000378394.3:n.*122C>G
ENST00000610929.3:c.*122C>G	ENSP00000480857.1:n.*122C>G
NM_001042465.1:c.*122C>G	NP_001035930.1:n.*122C>G
NM_001042466.1:c.*122C>G	NP_001035931.1:n.*122C>G
NM_002778.2:c.*122C>G	NP_002769.1:n.*122C>G
NM_001042465.2:c.*122C>G	NP_001035930.1:n.*122C>G
NM_001042466.2:c.*122C>G	NP_001035931.1:n.*122C>G
NM_002778.3:c.*122C>G	NP_002769.1:n.*122C>G
NM_002778.4:c.*122C>G MANE Select	NP_002769.1:n.*122C>G
NM_001042465.3:c.*122C>G	NP_001035930.1:n.*122C>G
NM_001042466.3:c.*122C>G	NP_001035931.1:n.*122C>G