Canonical Allele Identifier: CA5547587

Gene: PSAP

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71821910A>C , CM000672.2:g.71821910A>C	GRCh38
NC_000010.10:g.73581667A>C , CM000672.1:g.73581667A>C	GRCh37
NC_000010.9:g.73251673A>C	NCBI36
NG_009301.1:g.34416T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002778.4:c.875T>G MANE Select	NP_002769.1:p.Val292Gly
ENST00000394936.8:c.875T>G MANE Select	ENSP00000378394.3:p.Val292Gly
NM_001042465.1:c.884T>G	NP_001035930.1:p.Val295Gly
NM_001042465.2:c.884T>G	NP_001035930.1:p.Val295Gly
NM_001042465.3:c.884T>G	NP_001035930.1:p.Val295Gly
NM_001042466.1:c.881T>G	NP_001035931.1:p.Val294Gly
NM_001042466.2:c.881T>G	NP_001035931.1:p.Val294Gly
NM_001042466.3:c.881T>G	NP_001035931.1:p.Val294Gly
NM_002778.2:c.875T>G	NP_002769.1:p.Val292Gly
NM_002778.3:c.875T>G	NP_002769.1:p.Val292Gly
ENST00000394934.4:c.884T>G	ENSP00000378392.2:p.Val295Gly
ENST00000394936.7:c.875T>G	ENSP00000378394.3:p.Val292Gly
ENST00000493143.1:n.296T>G
ENST00000610929.3:c.271-2127T>G	ENSP00000480857.1:n.271-2127T>G
ENST00000633965.1:c.285T>G