Canonical Allele Identifier: CA377156402
Gene: PSAP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71834500C>T , CM000672.2:g.71834500C>T GRCh38
NC_000010.10:g.73594257C>T , CM000672.1:g.73594257C>T GRCh37
NC_000010.9:g.73264263C>T NCBI36
NG_009301.1:g.21826G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394936.8:c.46G>A MANE Select ENSP00000378394.3:p.Ala16Thr
ENST00000394934.4:c.46G>A ENSP00000378392.2:p.Ala16Thr
ENST00000394936.7:c.46G>A ENSP00000378394.3:p.Ala16Thr
ENST00000610929.3:c.46G>A ENSP00000480857.1:p.Ala16Thr
NM_001042465.1:c.46G>A NP_001035930.1:p.Ala16Thr
NM_001042466.1:c.46G>A NP_001035931.1:p.Ala16Thr
NM_002778.2:c.46G>A NP_002769.1:p.Ala16Thr
NM_001042465.2:c.46G>A NP_001035930.1:p.Ala16Thr
NM_001042466.2:c.46G>A NP_001035931.1:p.Ala16Thr
NM_002778.3:c.46G>A NP_002769.1:p.Ala16Thr
NM_002778.4:c.46G>A MANE Select NP_002769.1:p.Ala16Thr
NM_001042465.3:c.46G>A NP_001035930.1:p.Ala16Thr
NM_001042466.3:c.46G>A NP_001035931.1:p.Ala16Thr