Canonical Allele Identifier: CA5547724

Gene: PSAP

Linked Data

• ClinVar Variation Id: 300523
• ClinVar RCV Id: RCV000259735 ; RCV000284433 ; RCV000319640 ; RCV000898101
• dbSNP Id: rs185892516
• ExAC: 10:73587924 A / G
• gnomAD v2: 10-73587924-A-G
• gnomAD v3: 10-71828167-A-G
• gnomAD v4: 10-71828167-A-G
• MyVariant Identifiers: chr10:g.73587924A>G (hg19) ; chr10:g.71828167A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71828167A>G , CM000672.2:g.71828167A>G	GRCh38
NC_000010.10:g.73587924A>G , CM000672.1:g.73587924A>G	GRCh37
NC_000010.9:g.73257930A>G	NCBI36
NG_009301.1:g.28159T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.577-10T>C MANE Select	ENSP00000378394.3:n.577-10T>C
ENST00000394934.4:c.577-10T>C	ENSP00000378392.2:n.577-10T>C
ENST00000394936.7:c.577-10T>C	ENSP00000378394.3:n.577-10T>C
ENST00000610929.3:c.270+3064T>C	ENSP00000480857.1:n.270+3064T>C
NM_001042465.1:c.577-10T>C	NP_001035930.1:n.577-10T>C
NM_001042466.1:c.577-10T>C	NP_001035931.1:n.577-10T>C
NM_002778.2:c.577-10T>C	NP_002769.1:n.577-10T>C
NM_001042465.2:c.577-10T>C	NP_001035930.1:n.577-10T>C
NM_001042466.2:c.577-10T>C	NP_001035931.1:n.577-10T>C
NM_002778.3:c.577-10T>C	NP_002769.1:n.577-10T>C
NM_002778.4:c.577-10T>C MANE Select	NP_002769.1:n.577-10T>C
NM_001042465.3:c.577-10T>C	NP_001035930.1:n.577-10T>C
NM_001042466.3:c.577-10T>C	NP_001035931.1:n.577-10T>C