Canonical Allele Identifier: CA377148266

Gene: PSAP

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71822009T>C , CM000672.2:g.71822009T>C	GRCh38
NC_000010.10:g.73581766T>C , CM000672.1:g.73581766T>C	GRCh37
NC_000010.9:g.73251772T>C	NCBI36
NG_009301.1:g.34317A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002778.4:c.778-2A>G MANE Select	NP_002769.1:n.778-2A>G
ENST00000394936.8:c.778-2A>G MANE Select	ENSP00000378394.3:n.778-2A>G
NM_001042465.1:c.787-2A>G	NP_001035930.1:n.787-2A>G
NM_001042465.2:c.787-2A>G	NP_001035930.1:n.787-2A>G
NM_001042465.3:c.787-2A>G	NP_001035930.1:n.787-2A>G
NM_001042466.1:c.784-2A>G	NP_001035931.1:n.784-2A>G
NM_001042466.2:c.784-2A>G	NP_001035931.1:n.784-2A>G
NM_001042466.3:c.784-2A>G	NP_001035931.1:n.784-2A>G
NM_002778.2:c.778-2A>G	NP_002769.1:n.778-2A>G
NM_002778.3:c.778-2A>G	NP_002769.1:n.778-2A>G
ENST00000394934.4:c.785A>G	ENSP00000378392.2:p.Gln262Arg
ENST00000394936.7:c.778-2A>G	ENSP00000378394.3:n.778-2A>G
ENST00000493143.1:n.197A>G
ENST00000610929.3:c.271-2226A>G	ENSP00000480857.1:n.271-2226A>G
ENST00000633965.1:c.188-2A>G