Canonical Allele Identifier: CA5547306

Gene: PSAP

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71817510G>A , CM000672.2:g.71817510G>A	GRCh38
NC_000010.10:g.73577267G>A , CM000672.1:g.73577267G>A	GRCh37
NC_000010.9:g.73247273G>A	NCBI36
NG_008835.1:g.425564G>A
NG_009301.1:g.38816C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002778.4:c.1540-34C>T MANE Select	NP_002769.1:n.1540-34C>T
ENST00000394936.8:c.1540-34C>T MANE Select	ENSP00000378394.3:n.1540-34C>T
NM_001042465.1:c.1549-34C>T	NP_001035930.1:n.1549-34C>T
NM_001042465.2:c.1549-34C>T	NP_001035930.1:n.1549-34C>T
NM_001042465.3:c.1549-34C>T	NP_001035930.1:n.1549-34C>T
NM_001042466.1:c.1546-34C>T	NP_001035931.1:n.1546-34C>T
NM_001042466.2:c.1546-34C>T	NP_001035931.1:n.1546-34C>T
NM_001042466.3:c.1546-34C>T	NP_001035931.1:n.1546-34C>T
NM_002778.2:c.1540-34C>T	NP_002769.1:n.1540-34C>T
NM_002778.3:c.1540-34C>T	NP_002769.1:n.1540-34C>T
ENST00000394934.4:c.1549-34C>T	ENSP00000378392.2:n.1549-34C>T
ENST00000394936.7:c.1540-34C>T	ENSP00000378394.3:n.1540-34C>T
ENST00000610929.3:c.688-34C>T	ENSP00000480857.1:n.688-34C>T