Canonical Allele Identifier: CA377145657

Gene: PSAP

Linked Data

• MyVariant Identifiers: chr10:g.73580001G>C (hg19) ; chr10:g.71820244G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71820244G>C , CM000672.2:g.71820244G>C	GRCh38
NC_000010.10:g.73580001G>C , CM000672.1:g.73580001G>C	GRCh37
NC_000010.9:g.73250007G>C	NCBI36
NG_009301.1:g.36082C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.1001C>G MANE Select	ENSP00000378394.3:p.Thr334Ser
ENST00000394934.4:c.1010C>G	ENSP00000378392.2:p.Thr337Ser
ENST00000394936.7:c.1001C>G	ENSP00000378394.3:p.Thr334Ser
ENST00000493143.1:n.422C>G
ENST00000610929.3:c.271-461C>G	ENSP00000480857.1:n.271-461C>G
ENST00000633965.1:c.411C>G
NM_001042465.1:c.1010C>G	NP_001035930.1:p.Thr337Ser
NM_001042466.1:c.1007C>G	NP_001035931.1:p.Thr336Ser
NM_002778.2:c.1001C>G	NP_002769.1:p.Thr334Ser
NM_001042465.2:c.1010C>G	NP_001035930.1:p.Thr337Ser
NM_001042466.2:c.1007C>G	NP_001035931.1:p.Thr336Ser
NM_002778.3:c.1001C>G	NP_002769.1:p.Thr334Ser
NM_002778.4:c.1001C>G MANE Select	NP_002769.1:p.Thr334Ser
NM_001042465.3:c.1010C>G	NP_001035930.1:p.Thr337Ser
NM_001042466.3:c.1007C>G	NP_001035931.1:p.Thr336Ser