Canonical Allele Identifier: CA5547926

Gene: PSAP

Linked Data

• ClinVar Variation Id: 300538
• ClinVar RCV Id: RCV000263028 ; RCV000275892 ; RCV000316930 ; RCV000371674
• dbSNP Id: rs138010978
• ExAC: 10:73594275 C / G
• gnomAD v2: 10-73594275-C-G
• gnomAD v3: 10-71834518-C-G
• gnomAD v4: 10-71834518-C-G
• MyVariant Identifiers: chr10:g.73594275C>G (hg19) ; chr10:g.71834518C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71834518C>G , CM000672.2:g.71834518C>G	GRCh38
NC_000010.10:g.73594275C>G , CM000672.1:g.73594275C>G	GRCh37
NC_000010.9:g.73264281C>G	NCBI36
NG_009301.1:g.21808G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.41-13G>C MANE Select	ENSP00000378394.3:n.41-13G>C
ENST00000394934.4:c.41-13G>C	ENSP00000378392.2:n.41-13G>C
ENST00000394936.7:c.41-13G>C	ENSP00000378394.3:n.41-13G>C
ENST00000610929.3:c.41-13G>C	ENSP00000480857.1:n.41-13G>C
NM_001042465.1:c.41-13G>C	NP_001035930.1:n.41-13G>C
NM_001042466.1:c.41-13G>C	NP_001035931.1:n.41-13G>C
NM_002778.2:c.41-13G>C	NP_002769.1:n.41-13G>C
NM_001042465.2:c.41-13G>C	NP_001035930.1:n.41-13G>C
NM_001042466.2:c.41-13G>C	NP_001035931.1:n.41-13G>C
NM_002778.3:c.41-13G>C	NP_002769.1:n.41-13G>C
NM_002778.4:c.41-13G>C MANE Select	NP_002769.1:n.41-13G>C
NM_001042465.3:c.41-13G>C	NP_001035930.1:n.41-13G>C
NM_001042466.3:c.41-13G>C	NP_001035931.1:n.41-13G>C