Canonical Allele Identifier: CA10635732

Gene: PSAP

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71816666C>T , CM000672.2:g.71816666C>T	GRCh38
NC_000010.10:g.73576423C>T , CM000672.1:g.73576423C>T	GRCh37
NC_000010.9:g.73246429C>T	NCBI36
NG_008835.1:g.424720C>T
NG_009301.1:g.39660G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.*775G>A MANE Select	ENSP00000378394.3:n.*775G>A
ENST00000394934.4:c.*775G>A	ENSP00000378392.2:n.*775G>A
ENST00000394936.7:c.*775G>A	ENSP00000378394.3:n.*775G>A
ENST00000610929.3:c.*775G>A	ENSP00000480857.1:n.*775G>A
NM_001042465.1:c.*775G>A	NP_001035930.1:n.*775G>A
NM_001042466.1:c.*775G>A	NP_001035931.1:n.*775G>A
NM_002778.2:c.*775G>A	NP_002769.1:n.*775G>A
NM_001042465.2:c.*775G>A	NP_001035930.1:n.*775G>A
NM_001042466.2:c.*775G>A	NP_001035931.1:n.*775G>A
NM_002778.3:c.*775G>A	NP_002769.1:n.*775G>A
NM_002778.4:c.*775G>A MANE Select	NP_002769.1:n.*775G>A
NM_001042465.3:c.*775G>A	NP_001035930.1:n.*775G>A
NM_001042466.3:c.*775G>A	NP_001035931.1:n.*775G>A