Canonical Allele Identifier: CA123055
Gene: PSAP HGNC NCBI

Linked Data

ClinVar Variation Id: 13361
dbSNP Id: rs121918103

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71828084G>A , CM000672.2:g.71828084G>A GRCh38
NC_000010.10:g.73587841G>A , CM000672.1:g.73587841G>A GRCh37
NC_000010.9:g.73257847G>A NCBI36
NG_009301.1:g.28242C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000394936.8:c.650C>T MANE Select ENSP00000378394.3:p.Thr217Ile
ENST00000394934.4:c.650C>T ENSP00000378392.2:p.Thr217Ile
ENST00000394936.7:c.650C>T ENSP00000378394.3:p.Thr217Ile
ENST00000610929.3:c.270+3147C>T ENSP00000480857.1:n.270+3147C>T
ENST00000633965.1:c.51C>T
NM_001042465.1:c.650C>T NP_001035930.1:p.Thr217Ile
NM_001042466.1:c.650C>T NP_001035931.1:p.Thr217Ile
NM_002778.2:c.650C>T NP_002769.1:p.Thr217Ile
NM_001042465.2:c.650C>T NP_001035930.1:p.Thr217Ile
NM_001042466.2:c.650C>T NP_001035931.1:p.Thr217Ile
NM_002778.3:c.650C>T NP_002769.1:p.Thr217Ile
NM_002778.4:c.650C>T MANE Select NP_002769.1:p.Thr217Ile
NM_001042465.3:c.650C>T NP_001035930.1:p.Thr217Ile
NM_001042466.3:c.650C>T NP_001035931.1:p.Thr217Ile