Canonical Allele Identifier: CA5547905

Gene: PSAP

Linked Data

• ClinVar Variation Id: 300535
• ClinVar RCV Id: RCV000284356 ; RCV000339496 ; RCV000374243 ; RCV000390195
• dbSNP Id: rs200008050
• ExAC: 10:73594209 A / C
• gnomAD v2: 10-73594209-A-C
• gnomAD v3: 10-71834452-A-C
• gnomAD v4: 10-71834452-A-C
• MyVariant Identifiers: chr10:g.73594209A>C (hg19) ; chr10:g.71834452A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71834452A>C , CM000672.2:g.71834452A>C	GRCh38
NC_000010.10:g.73594209A>C , CM000672.1:g.73594209A>C	GRCh37
NC_000010.9:g.73264215A>C	NCBI36
NG_009301.1:g.21874T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.94T>G MANE Select	ENSP00000378394.3:p.Trp32Gly
ENST00000394934.4:c.94T>G	ENSP00000378392.2:p.Trp32Gly
ENST00000394936.7:c.94T>G	ENSP00000378394.3:p.Trp32Gly
ENST00000610929.3:c.94T>G	ENSP00000480857.1:p.Trp32Gly
NM_001042465.1:c.94T>G	NP_001035930.1:p.Trp32Gly
NM_001042466.1:c.94T>G	NP_001035931.1:p.Trp32Gly
NM_002778.2:c.94T>G	NP_002769.1:p.Trp32Gly
NM_001042465.2:c.94T>G	NP_001035930.1:p.Trp32Gly
NM_001042466.2:c.94T>G	NP_001035931.1:p.Trp32Gly
NM_002778.3:c.94T>G	NP_002769.1:p.Trp32Gly
NM_002778.4:c.94T>G MANE Select	NP_002769.1:p.Trp32Gly
NM_001042465.3:c.94T>G	NP_001035930.1:p.Trp32Gly
NM_001042466.3:c.94T>G	NP_001035931.1:p.Trp32Gly