Canonical Allele Identifier: CA377142372

Gene: PSAP

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71819467G>A , CM000672.2:g.71819467G>A	GRCh38
NC_000010.10:g.73579224G>A , CM000672.1:g.73579224G>A	GRCh37
NC_000010.9:g.73249230G>A	NCBI36
NG_009301.1:g.36859C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002778.4:c.1348C>T MANE Select	NP_002769.1:p.Gln450Ter
ENST00000394936.8:c.1348C>T MANE Select	ENSP00000378394.3:p.Gln450Ter
NM_001042465.1:c.1357C>T	NP_001035930.1:p.Gln453Ter
NM_001042465.2:c.1357C>T	NP_001035930.1:p.Gln453Ter
NM_001042465.3:c.1357C>T	NP_001035930.1:p.Gln453Ter
NM_001042466.1:c.1354C>T	NP_001035931.1:p.Gln452Ter
NM_001042466.2:c.1354C>T	NP_001035931.1:p.Gln452Ter
NM_001042466.3:c.1354C>T	NP_001035931.1:p.Gln452Ter
NM_002778.2:c.1348C>T	NP_002769.1:p.Gln450Ter
NM_002778.3:c.1348C>T	NP_002769.1:p.Gln450Ter
ENST00000394934.4:c.1357C>T	ENSP00000378392.2:p.Gln453Ter
ENST00000394936.7:c.1348C>T	ENSP00000378394.3:p.Gln450Ter
ENST00000610929.3:c.496C>T	ENSP00000480857.1:p.Gln166Ter