Canonical Allele Identifier: CA5547333

Gene: PSAP

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71818727A>G , CM000672.2:g.71818727A>G	GRCh38
NC_000010.10:g.73578484A>G , CM000672.1:g.73578484A>G	GRCh37
NC_000010.9:g.73248490A>G	NCBI36
NG_009301.1:g.37599T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002778.4:c.1432-3T>C MANE Select	NP_002769.1:n.1432-3T>C
ENST00000394936.8:c.1432-3T>C MANE Select	ENSP00000378394.3:n.1432-3T>C
NM_001042465.1:c.1441-3T>C	NP_001035930.1:n.1441-3T>C
NM_001042465.2:c.1441-3T>C	NP_001035930.1:n.1441-3T>C
NM_001042465.3:c.1441-3T>C	NP_001035930.1:n.1441-3T>C
NM_001042466.1:c.1438-3T>C	NP_001035931.1:n.1438-3T>C
NM_001042466.2:c.1438-3T>C	NP_001035931.1:n.1438-3T>C
NM_001042466.3:c.1438-3T>C	NP_001035931.1:n.1438-3T>C
NM_002778.2:c.1432-3T>C	NP_002769.1:n.1432-3T>C
NM_002778.3:c.1432-3T>C	NP_002769.1:n.1432-3T>C
ENST00000394934.4:c.1441-3T>C	ENSP00000378392.2:n.1441-3T>C
ENST00000394936.7:c.1432-3T>C	ENSP00000378394.3:n.1432-3T>C
ENST00000495196.1:n.242-3T>C
ENST00000610929.3:c.580-3T>C	ENSP00000480857.1:n.580-3T>C