Canonical Allele Identifier: CA5547297

Gene: PSAP

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71817470C>T , CM000672.2:g.71817470C>T	GRCh38
NC_000010.10:g.73577227C>T , CM000672.1:g.73577227C>T	GRCh37
NC_000010.9:g.73247233C>T	NCBI36
NG_008835.1:g.425524C>T
NG_009301.1:g.38856G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002778.4:c.1546G>A MANE Select	NP_002769.1:p.Glu516Lys
ENST00000394936.8:c.1546G>A MANE Select	ENSP00000378394.3:p.Glu516Lys
NM_001042465.1:c.1555G>A	NP_001035930.1:p.Glu519Lys
NM_001042465.2:c.1555G>A	NP_001035930.1:p.Glu519Lys
NM_001042465.3:c.1555G>A	NP_001035930.1:p.Glu519Lys
NM_001042466.1:c.1552G>A	NP_001035931.1:p.Glu518Lys
NM_001042466.2:c.1552G>A	NP_001035931.1:p.Glu518Lys
NM_001042466.3:c.1552G>A	NP_001035931.1:p.Glu518Lys
NM_002778.2:c.1546G>A	NP_002769.1:p.Glu516Lys
NM_002778.3:c.1546G>A	NP_002769.1:p.Glu516Lys
ENST00000394934.4:c.1555G>A	ENSP00000378392.2:p.Glu519Lys
ENST00000394936.7:c.1546G>A	ENSP00000378394.3:p.Glu516Lys
ENST00000610929.3:c.694G>A	ENSP00000480857.1:p.Glu232Lys