Canonical Allele Identifier: CA470061916

Gene: PSAP

Linked Data

• ClinVar Variation Id: 1577575
• ClinVar RCV Id: RCV002081037
• dbSNP Id: rs2133053073
• gnomAD v4: 10-71834489-G-T
• MyVariant Identifiers: chr10:g.73594246G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71834489G>T , CM000672.2:g.71834489G>T	GRCh38
NC_000010.10:g.73594246G>T , CM000672.1:g.73594246G>T	GRCh37
NC_000010.9:g.73264252G>T	NCBI36
NG_009301.1:g.21837C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.57C>A MANE Select	ENSP00000378394.3:p.Val19=
ENST00000394934.4:c.57C>A	ENSP00000378392.2:p.Val19=
ENST00000394936.7:c.57C>A	ENSP00000378394.3:p.Val19=
ENST00000610929.3:c.57C>A	ENSP00000480857.1:p.Val19=
NM_001042465.1:c.57C>A	NP_001035930.1:p.Val19=
NM_001042466.1:c.57C>A	NP_001035931.1:p.Val19=
NM_002778.2:c.57C>A	NP_002769.1:p.Val19=
NM_001042465.2:c.57C>A	NP_001035930.1:p.Val19=
NM_001042466.2:c.57C>A	NP_001035931.1:p.Val19=
NM_002778.3:c.57C>A	NP_002769.1:p.Val19=
NM_002778.4:c.57C>A MANE Select	NP_002769.1:p.Val19=
NM_001042465.3:c.57C>A	NP_001035930.1:p.Val19=
NM_001042466.3:c.57C>A	NP_001035931.1:p.Val19=