Canonical Allele Identifier: CA470059832

Gene: PSAP

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71819031C>T , CM000672.2:g.71819031C>T	GRCh38
NC_000010.10:g.73578788C>T , CM000672.1:g.73578788C>T	GRCh37
NC_000010.9:g.73248794C>T	NCBI36
NG_009301.1:g.37295G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002778.4:c.1431G>A MANE Select	NP_002769.1:p.Leu477=
ENST00000394936.8:c.1431G>A MANE Select	ENSP00000378394.3:p.Leu477=
NM_001042465.1:c.1440G>A	NP_001035930.1:p.Leu480=
NM_001042465.2:c.1440G>A	NP_001035930.1:p.Leu480=
NM_001042465.3:c.1440G>A	NP_001035930.1:p.Leu480=
NM_001042466.1:c.1437G>A	NP_001035931.1:p.Leu479=
NM_001042466.2:c.1437G>A	NP_001035931.1:p.Leu479=
NM_001042466.3:c.1437G>A	NP_001035931.1:p.Leu479=
NM_002778.2:c.1431G>A	NP_002769.1:p.Leu477=
NM_002778.3:c.1431G>A	NP_002769.1:p.Leu477=
ENST00000394934.4:c.1440G>A	ENSP00000378392.2:p.Leu480=
ENST00000394936.7:c.1431G>A	ENSP00000378394.3:p.Leu477=
ENST00000495196.1:n.241G>A
ENST00000610929.3:c.579G>A	ENSP00000480857.1:p.Leu193=