Canonical Allele Identifier: CA5547957

Gene: PSAP

Linked Data

• ClinVar Variation Id: 258805
• ClinVar RCV Id: RCV000245942 ; RCV000265215 ; RCV000266404 ; RCV000320357 ; RCV000360960
• dbSNP Id: rs375720661
• ExAC: 10:73611006 T / G
• gnomAD v2: 10-73611006-T-G
• gnomAD v3: 10-71851249-T-G
• gnomAD v4: 10-71851249-T-G
• MyVariant Identifiers: chr10:g.73611006T>G (hg19) ; chr10:g.71851249T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71851249T>G , CM000672.2:g.71851249T>G	GRCh38
NC_000010.10:g.73611006T>G , CM000672.1:g.73611006T>G	GRCh37
NC_000010.9:g.73281012T>G	NCBI36
NG_009301.1:g.5077A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.-28A>C MANE Select	ENSP00000378394.3:n.-28A>C
ENST00000394934.4:c.-28A>C	ENSP00000378392.2:n.-28A>C
ENST00000394936.7:c.-28A>C	ENSP00000378394.3:n.-28A>C
ENST00000610929.3:c.-28A>C	ENSP00000480857.1:n.-28A>C
NM_001042465.1:c.-28A>C	NP_001035930.1:n.-28A>C
NM_001042466.1:c.-28A>C	NP_001035931.1:n.-28A>C
NM_002778.2:c.-28A>C	NP_002769.1:n.-28A>C
NM_001042465.2:c.-28A>C	NP_001035930.1:n.-28A>C
NM_001042466.2:c.-28A>C	NP_001035931.1:n.-28A>C
NM_002778.3:c.-28A>C	NP_002769.1:n.-28A>C
NM_002778.4:c.-28A>C MANE Select	NP_002769.1:n.-28A>C
NM_001042465.3:c.-28A>C	NP_001035930.1:n.-28A>C
NM_001042466.3:c.-28A>C	NP_001035931.1:n.-28A>C