Canonical Allele Identifier: CA377142288

Gene: PSAP

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71819113T>C , CM000672.2:g.71819113T>C	GRCh38
NC_000010.10:g.73578870T>C , CM000672.1:g.73578870T>C	GRCh37
NC_000010.9:g.73248876T>C	NCBI36
NG_009301.1:g.37213A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002778.4:c.1351-2A>G MANE Select	NP_002769.1:n.1351-2A>G
ENST00000394936.8:c.1351-2A>G MANE Select	ENSP00000378394.3:n.1351-2A>G
NM_001042465.1:c.1360-2A>G	NP_001035930.1:n.1360-2A>G
NM_001042465.2:c.1360-2A>G	NP_001035930.1:n.1360-2A>G
NM_001042465.3:c.1360-2A>G	NP_001035930.1:n.1360-2A>G
NM_001042466.1:c.1357-2A>G	NP_001035931.1:n.1357-2A>G
NM_001042466.2:c.1357-2A>G	NP_001035931.1:n.1357-2A>G
NM_001042466.3:c.1357-2A>G	NP_001035931.1:n.1357-2A>G
NM_002778.2:c.1351-2A>G	NP_002769.1:n.1351-2A>G
NM_002778.3:c.1351-2A>G	NP_002769.1:n.1351-2A>G
ENST00000394934.4:c.1360-2A>G	ENSP00000378392.2:n.1360-2A>G
ENST00000394936.7:c.1351-2A>G	ENSP00000378394.3:n.1351-2A>G
ENST00000495196.1:n.159A>G
ENST00000610929.3:c.499-2A>G	ENSP00000480857.1:n.499-2A>G