Canonical Allele Identifier: CA2586620285

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791863G>A , CM000681.2:g.50791863G>A GRCh38
NC_000019.9:g.51295120G>A , CM000681.1:g.51295120G>A GRCh37
NC_000019.8:g.55986932G>A NCBI36
NG_052652.1:g.6449G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.450+61G>A (ACP4) MANE Select ENSP00000270593.1:n.450+61G>A
ENST00000636757.1:c.-60+542C>T (SMIM47) ENSP00000489695.1:n.-60+542C>T
ENST00000270593.1:c.450+61G>A (ACP4) ENSP00000270593.1:n.450+61G>A
NM_033068.2:c.450+61G>A (ACP4) NP_149059.1:n.450+61G>A
XR_936026.1:n.424+542C>T
XR_936026.2:n.434+542C>T
NM_033068.3:c.450+61G>A (ACP4) MANE Select NP_149059.1:n.450+61G>A