Canonical Allele Identifier: CA2341080417

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791684G= , CM000681.2:g.50791684G= GRCh38
NC_000019.9:g.51294941G= , CM000681.1:g.51294941G= GRCh37
NC_000019.8:g.55986753G= NCBI36
NG_052652.1:g.6270G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.332G= (ACP4) MANE Select ENSP00000270593.1:p.Arg111=
ENST00000636757.1:c.-60+721C= (SMIM47) ENSP00000489695.1:n.-60+721C=
ENST00000270593.1:c.332G= (ACP4) ENSP00000270593.1:p.Arg111=
NM_033068.2:c.332G= (ACP4) NP_149059.1:p.Arg111=
XR_936026.1:n.424+721C=
XR_936026.2:n.434+721C=
NM_033068.3:c.332G= (ACP4) MANE Select NP_149059.1:p.Arg111=