Canonical Allele Identifier: CA5547324

Gene: PSAP

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71818637C>G , CM000672.2:g.71818637C>G	GRCh38
NC_000010.10:g.73578394C>G , CM000672.1:g.73578394C>G	GRCh37
NC_000010.9:g.73248400C>G	NCBI36
NG_009301.1:g.37689G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002778.4:c.1519G>C MANE Select	NP_002769.1:p.Glu507Gln
ENST00000394936.8:c.1519G>C MANE Select	ENSP00000378394.3:p.Glu507Gln
NM_001042465.1:c.1528G>C	NP_001035930.1:p.Glu510Gln
NM_001042465.2:c.1528G>C	NP_001035930.1:p.Glu510Gln
NM_001042465.3:c.1528G>C	NP_001035930.1:p.Glu510Gln
NM_001042466.1:c.1525G>C	NP_001035931.1:p.Glu509Gln
NM_001042466.2:c.1525G>C	NP_001035931.1:p.Glu509Gln
NM_001042466.3:c.1525G>C	NP_001035931.1:p.Glu509Gln
NM_002778.2:c.1519G>C	NP_002769.1:p.Glu507Gln
NM_002778.3:c.1519G>C	NP_002769.1:p.Glu507Gln
ENST00000394934.4:c.1528G>C	ENSP00000378392.2:p.Glu510Gln
ENST00000394936.7:c.1519G>C	ENSP00000378394.3:p.Glu507Gln
ENST00000495196.1:n.329G>C
ENST00000610929.3:c.667G>C	ENSP00000480857.1:p.Glu223Gln