Canonical Allele Identifier: CA5547418

Gene: PSAP

Linked Data

• ClinVar Variation Id: 300512
• ClinVar RCV Id: RCV000267782 ; RCV000320675 ; RCV000360171 ; RCV000377595
• dbSNP Id: rs529719024
• ExAC: 10:73579311 G / A
• gnomAD v2: 10-73579311-G-A
• gnomAD v3: 10-71819554-G-A
• gnomAD v4: 10-71819554-G-A
• COSMIC: COSM4405783 ; COSM4405784
• MyVariant Identifiers: chr10:g.73579311G>A (hg19) ; chr10:g.71819554G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71819554G>A , CM000672.2:g.71819554G>A	GRCh38
NC_000010.10:g.73579311G>A , CM000672.1:g.73579311G>A	GRCh37
NC_000010.9:g.73249317G>A	NCBI36
NG_009301.1:g.36772C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.1261C>T MANE Select	ENSP00000378394.3:p.Arg421Cys
ENST00000394934.4:c.1270C>T	ENSP00000378392.2:p.Arg424Cys
ENST00000394936.7:c.1261C>T	ENSP00000378394.3:p.Arg421Cys
ENST00000610929.3:c.409C>T	ENSP00000480857.1:p.Arg137Cys
NM_001042465.1:c.1270C>T	NP_001035930.1:p.Arg424Cys
NM_001042466.1:c.1267C>T	NP_001035931.1:p.Arg423Cys
NM_002778.2:c.1261C>T	NP_002769.1:p.Arg421Cys
NM_001042465.2:c.1270C>T	NP_001035930.1:p.Arg424Cys
NM_001042466.2:c.1267C>T	NP_001035931.1:p.Arg423Cys
NM_002778.3:c.1261C>T	NP_002769.1:p.Arg421Cys
NM_002778.4:c.1261C>T MANE Select	NP_002769.1:p.Arg421Cys
NM_001042465.3:c.1270C>T	NP_001035930.1:p.Arg424Cys
NM_001042466.3:c.1267C>T	NP_001035931.1:p.Arg423Cys