Canonical Allele Identifier: CA5547708

Gene: PSAP

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71828089G>T , CM000672.2:g.71828089G>T	GRCh38
NC_000010.10:g.73587846G>T , CM000672.1:g.73587846G>T	GRCh37
NC_000010.9:g.73257852G>T	NCBI36
NG_009301.1:g.28237C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002778.4:c.645C>A MANE Select	NP_002769.1:p.Asn215Lys
ENST00000394936.8:c.645C>A MANE Select	ENSP00000378394.3:p.Asn215Lys
NM_001042465.1:c.645C>A	NP_001035930.1:p.Asn215Lys
NM_001042465.2:c.645C>A	NP_001035930.1:p.Asn215Lys
NM_001042465.3:c.645C>A	NP_001035930.1:p.Asn215Lys
NM_001042466.1:c.645C>A	NP_001035931.1:p.Asn215Lys
NM_001042466.2:c.645C>A	NP_001035931.1:p.Asn215Lys
NM_001042466.3:c.645C>A	NP_001035931.1:p.Asn215Lys
NM_002778.2:c.645C>A	NP_002769.1:p.Asn215Lys
NM_002778.3:c.645C>A	NP_002769.1:p.Asn215Lys
ENST00000394934.4:c.645C>A	ENSP00000378392.2:p.Asn215Lys
ENST00000394936.7:c.645C>A	ENSP00000378394.3:p.Asn215Lys
ENST00000610929.3:c.270+3142C>A	ENSP00000480857.1:n.270+3142C>A
ENST00000633965.1:c.46C>A