Canonical Allele Identifier: CA407009073

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791785C>T , CM000681.2:g.50791785C>T GRCh38
NC_000019.9:g.51295042C>T , CM000681.1:g.51295042C>T GRCh37
NC_000019.8:g.55986854C>T NCBI36
NG_052652.1:g.6371C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.433C>T (ACP4) MANE Select ENSP00000270593.1:p.Pro145Ser
ENST00000636757.1:c.-60+620G>A (SMIM47) ENSP00000489695.1:n.-60+620G>A
ENST00000270593.1:c.433C>T (ACP4) ENSP00000270593.1:p.Pro145Ser
NM_033068.2:c.433C>T (ACP4) NP_149059.1:p.Pro145Ser
XR_936026.1:n.424+620G>A
XR_936026.2:n.434+620G>A
NM_033068.3:c.433C>T (ACP4) MANE Select NP_149059.1:p.Pro145Ser