Canonical Allele Identifier: CA1918891166
Gene: PSAP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71834486A= , CM000672.2:g.71834486A= GRCh38
NC_000010.10:g.73594243A= , CM000672.1:g.73594243A= GRCh37
NC_000010.9:g.73264249A= NCBI36
NG_009301.1:g.21840T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000394936.8:c.60T= MANE Select ENSP00000378394.3:p.Leu20=
ENST00000394934.4:c.60T= ENSP00000378392.2:p.Leu20=
ENST00000394936.7:c.60T= ENSP00000378394.3:p.Leu20=
ENST00000610929.3:c.60T= ENSP00000480857.1:p.Leu20=
NM_001042465.1:c.60T= NP_001035930.1:p.Leu20=
NM_001042466.1:c.60T= NP_001035931.1:p.Leu20=
NM_002778.2:c.60T= NP_002769.1:p.Leu20=
NM_001042465.2:c.60T= NP_001035930.1:p.Leu20=
NM_001042466.2:c.60T= NP_001035931.1:p.Leu20=
NM_002778.3:c.60T= NP_002769.1:p.Leu20=
NM_002778.4:c.60T= MANE Select NP_002769.1:p.Leu20=
NM_001042465.3:c.60T= NP_001035930.1:p.Leu20=
NM_001042466.3:c.60T= NP_001035931.1:p.Leu20=