Canonical Allele Identifier: CA5547892

Gene: PSAP

Linked Data

• ClinVar Variation Id: 444223
• ClinVar RCV Id: RCV000513446 ; RCV001088093 ; RCV001829458 ; RCV004023457
• dbSNP Id: rs558427025
• ExAC: 10:73594175 C / T
• gnomAD v2: 10-73594175-C-T
• gnomAD v3: 10-71834418-C-T
• gnomAD v4: 10-71834418-C-T
• MyVariant Identifiers: chr10:g.73594175C>T (hg19) ; chr10:g.71834418C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71834418C>T , CM000672.2:g.71834418C>T	GRCh38
NC_000010.10:g.73594175C>T , CM000672.1:g.73594175C>T	GRCh37
NC_000010.9:g.73264181C>T	NCBI36
NG_009301.1:g.21908G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.128G>A MANE Select	ENSP00000378394.3:p.Gly43Glu
ENST00000394934.4:c.128G>A	ENSP00000378392.2:p.Gly43Glu
ENST00000394936.7:c.128G>A	ENSP00000378394.3:p.Gly43Glu
ENST00000610929.3:c.128G>A	ENSP00000480857.1:p.Gly43Glu
NM_001042465.1:c.128G>A	NP_001035930.1:p.Gly43Glu
NM_001042466.1:c.128G>A	NP_001035931.1:p.Gly43Glu
NM_002778.2:c.128G>A	NP_002769.1:p.Gly43Glu
NM_001042465.2:c.128G>A	NP_001035930.1:p.Gly43Glu
NM_001042466.2:c.128G>A	NP_001035931.1:p.Gly43Glu
NM_002778.3:c.128G>A	NP_002769.1:p.Gly43Glu
NM_002778.4:c.128G>A MANE Select	NP_002769.1:p.Gly43Glu
NM_001042465.3:c.128G>A	NP_001035930.1:p.Gly43Glu
NM_001042466.3:c.128G>A	NP_001035931.1:p.Gly43Glu