Canonical Allele Identifier: CA5547486

Gene: PSAP

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71819830T>G , CM000672.2:g.71819830T>G	GRCh38
NC_000010.10:g.73579587T>G , CM000672.1:g.73579587T>G	GRCh37
NC_000010.9:g.73249593T>G	NCBI36
NG_009301.1:g.36496A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002778.4:c.1076A>C MANE Select	NP_002769.1:p.Glu359Ala
ENST00000394936.8:c.1076A>C MANE Select	ENSP00000378394.3:p.Glu359Ala
NM_001042465.1:c.1085A>C	NP_001035930.1:p.Glu362Ala
NM_001042465.2:c.1085A>C	NP_001035930.1:p.Glu362Ala
NM_001042465.3:c.1085A>C	NP_001035930.1:p.Glu362Ala
NM_001042466.1:c.1082A>C	NP_001035931.1:p.Glu361Ala
NM_001042466.2:c.1082A>C	NP_001035931.1:p.Glu361Ala
NM_001042466.3:c.1082A>C	NP_001035931.1:p.Glu361Ala
NM_002778.2:c.1076A>C	NP_002769.1:p.Glu359Ala
NM_002778.3:c.1076A>C	NP_002769.1:p.Glu359Ala
ENST00000394934.4:c.1085A>C	ENSP00000378392.2:p.Glu362Ala
ENST00000394936.7:c.1076A>C	ENSP00000378394.3:p.Glu359Ala
ENST00000493143.1:n.497A>C
ENST00000610929.3:c.271-47A>C	ENSP00000480857.1:n.271-47A>C
ENST00000633965.1:c.486A>C