Canonical Allele Identifier: CA5547949

Gene: PSAP

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71851221T>C , CM000672.2:g.71851221T>C	GRCh38
NC_000010.10:g.73610978T>C , CM000672.1:g.73610978T>C	GRCh37
NC_000010.9:g.73280984T>C	NCBI36
NG_009301.1:g.5105A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002778.4:c.1A>G MANE Select	NP_002769.1:p.Met1Val
ENST00000394936.8:c.1A>G MANE Select	ENSP00000378394.3:p.Met1Val
NM_001042465.1:c.1A>G	NP_001035930.1:p.Met1Val
NM_001042465.2:c.1A>G	NP_001035930.1:p.Met1Val
NM_001042465.3:c.1A>G	NP_001035930.1:p.Met1Val
NM_001042466.1:c.1A>G	NP_001035931.1:p.Met1Val
NM_001042466.2:c.1A>G	NP_001035931.1:p.Met1Val
NM_001042466.3:c.1A>G	NP_001035931.1:p.Met1Val
NM_002778.2:c.1A>G	NP_002769.1:p.Met1Val
NM_002778.3:c.1A>G	NP_002769.1:p.Met1Val
ENST00000394934.4:c.1A>G	ENSP00000378392.2:p.Met1Val
ENST00000394936.7:c.1A>G	ENSP00000378394.3:p.Met1Val
ENST00000610929.3:c.1A>G	ENSP00000480857.1:p.Met1Val