Canonical Allele Identifier: CA5547771

Gene: PSAP

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71829030G>A , CM000672.2:g.71829030G>A	GRCh38
NC_000010.10:g.73588787G>A , CM000672.1:g.73588787G>A	GRCh37
NC_000010.9:g.73258793G>A	NCBI36
NG_009301.1:g.27296C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002778.4:c.423C>T MANE Select	NP_002769.1:p.Leu141=
ENST00000394936.8:c.423C>T MANE Select	ENSP00000378394.3:p.Leu141=
NM_001042465.1:c.423C>T	NP_001035930.1:p.Leu141=
NM_001042465.2:c.423C>T	NP_001035930.1:p.Leu141=
NM_001042465.3:c.423C>T	NP_001035930.1:p.Leu141=
NM_001042466.1:c.423C>T	NP_001035931.1:p.Leu141=
NM_001042466.2:c.423C>T	NP_001035931.1:p.Leu141=
NM_001042466.3:c.423C>T	NP_001035931.1:p.Leu141=
NM_002778.2:c.423C>T	NP_002769.1:p.Leu141=
NM_002778.3:c.423C>T	NP_002769.1:p.Leu141=
ENST00000394934.4:c.423C>T	ENSP00000378392.2:p.Leu141=
ENST00000394936.7:c.423C>T	ENSP00000378394.3:p.Leu141=
ENST00000610929.3:c.270+2201C>T	ENSP00000480857.1:n.270+2201C>T