Canonical Allele Identifier: CA15648672

Gene: PSAP

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71818395T>A , CM000672.2:g.71818395T>A	GRCh38
NC_000010.10:g.73578152T>A , CM000672.1:g.73578152T>A	GRCh37
NC_000010.9:g.73248158T>A	NCBI36
NG_009301.1:g.37931A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002778.4:c.1539+222A>T MANE Select	NP_002769.1:n.1539+222A>T
ENST00000394936.8:c.1539+222A>T MANE Select	ENSP00000378394.3:n.1539+222A>T
NM_001042465.1:c.1548+222A>T	NP_001035930.1:n.1548+222A>T
NM_001042465.2:c.1548+222A>T	NP_001035930.1:n.1548+222A>T
NM_001042465.3:c.1548+222A>T	NP_001035930.1:n.1548+222A>T
NM_001042466.1:c.1545+222A>T	NP_001035931.1:n.1545+222A>T
NM_001042466.2:c.1545+222A>T	NP_001035931.1:n.1545+222A>T
NM_001042466.3:c.1545+222A>T	NP_001035931.1:n.1545+222A>T
NM_002778.2:c.1539+222A>T	NP_002769.1:n.1539+222A>T
NM_002778.3:c.1539+222A>T	NP_002769.1:n.1539+222A>T
ENST00000394934.4:c.1548+222A>T	ENSP00000378392.2:n.1548+222A>T
ENST00000394936.7:c.1539+222A>T	ENSP00000378394.3:n.1539+222A>T
ENST00000610929.3:c.687+222A>T	ENSP00000480857.1:n.687+222A>T