Canonical Allele Identifier: CA377151589

Gene: PSAP

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71828141C>T , CM000672.2:g.71828141C>T	GRCh38
NC_000010.10:g.73587898C>T , CM000672.1:g.73587898C>T	GRCh37
NC_000010.9:g.73257904C>T	NCBI36
NG_009301.1:g.28185G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002778.4:c.593G>A MANE Select	NP_002769.1:p.Cys198Tyr
ENST00000394936.8:c.593G>A MANE Select	ENSP00000378394.3:p.Cys198Tyr
NM_001042465.1:c.593G>A	NP_001035930.1:p.Cys198Tyr
NM_001042465.2:c.593G>A	NP_001035930.1:p.Cys198Tyr
NM_001042465.3:c.593G>A	NP_001035930.1:p.Cys198Tyr
NM_001042466.1:c.593G>A	NP_001035931.1:p.Cys198Tyr
NM_001042466.2:c.593G>A	NP_001035931.1:p.Cys198Tyr
NM_001042466.3:c.593G>A	NP_001035931.1:p.Cys198Tyr
NM_002778.2:c.593G>A	NP_002769.1:p.Cys198Tyr
NM_002778.3:c.593G>A	NP_002769.1:p.Cys198Tyr
ENST00000394934.4:c.593G>A	ENSP00000378392.2:p.Cys198Tyr
ENST00000394936.7:c.593G>A	ENSP00000378394.3:p.Cys198Tyr
ENST00000610929.3:c.270+3090G>A	ENSP00000480857.1:n.270+3090G>A