Canonical Allele Identifier: CA5547585

Gene: PSAP

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71821896C>A , CM000672.2:g.71821896C>A	GRCh38
NC_000010.10:g.73581653C>A , CM000672.1:g.73581653C>A	GRCh37
NC_000010.9:g.73251659C>A	NCBI36
NG_009301.1:g.34430G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002778.4:c.889G>T MANE Select	NP_002769.1:p.Glu297Ter
ENST00000394936.8:c.889G>T MANE Select	ENSP00000378394.3:p.Glu297Ter
NM_001042465.1:c.898G>T	NP_001035930.1:p.Glu300Ter
NM_001042465.2:c.898G>T	NP_001035930.1:p.Glu300Ter
NM_001042465.3:c.898G>T	NP_001035930.1:p.Glu300Ter
NM_001042466.1:c.895G>T	NP_001035931.1:p.Glu299Ter
NM_001042466.2:c.895G>T	NP_001035931.1:p.Glu299Ter
NM_001042466.3:c.895G>T	NP_001035931.1:p.Glu299Ter
NM_002778.2:c.889G>T	NP_002769.1:p.Glu297Ter
NM_002778.3:c.889G>T	NP_002769.1:p.Glu297Ter
ENST00000394934.4:c.898G>T	ENSP00000378392.2:p.Glu300Ter
ENST00000394936.7:c.889G>T	ENSP00000378394.3:p.Glu297Ter
ENST00000493143.1:n.310G>T
ENST00000610929.3:c.271-2113G>T	ENSP00000480857.1:n.271-2113G>T
ENST00000633965.1:c.299G>T