Canonical Allele Identifier: CA377153376

Gene: PSAP

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71831124A>C , CM000672.2:g.71831124A>C	GRCh38
NC_000010.10:g.73590881A>C , CM000672.1:g.73590881A>C	GRCh37
NC_000010.9:g.73260887A>C	NCBI36
NG_009301.1:g.25202T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002778.4:c.375+2T>G MANE Select	NP_002769.1:n.375+2T>G
ENST00000394936.8:c.375+2T>G MANE Select	ENSP00000378394.3:n.375+2T>G
NM_001042465.1:c.375+2T>G	NP_001035930.1:n.375+2T>G
NM_001042465.2:c.375+2T>G	NP_001035930.1:n.375+2T>G
NM_001042465.3:c.375+2T>G	NP_001035930.1:n.375+2T>G
NM_001042466.1:c.375+2T>G	NP_001035931.1:n.375+2T>G
NM_001042466.2:c.375+2T>G	NP_001035931.1:n.375+2T>G
NM_001042466.3:c.375+2T>G	NP_001035931.1:n.375+2T>G
NM_002778.2:c.375+2T>G	NP_002769.1:n.375+2T>G
NM_002778.3:c.375+2T>G	NP_002769.1:n.375+2T>G
ENST00000394934.4:c.375+2T>G	ENSP00000378392.2:n.375+2T>G
ENST00000394936.7:c.375+2T>G	ENSP00000378394.3:n.375+2T>G
ENST00000610929.3:c.270+107T>G	ENSP00000480857.1:n.270+107T>G