Canonical Allele Identifier: CA2341080436

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791721G= , CM000681.2:g.50791721G= GRCh38
NC_000019.9:g.51294978G= , CM000681.1:g.51294978G= GRCh37
NC_000019.8:g.55986790G= NCBI36
NG_052652.1:g.6307G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.369G= (ACP4) MANE Select ENSP00000270593.1:p.Leu123=
ENST00000636757.1:c.-60+684C= (SMIM47) ENSP00000489695.1:n.-60+684C=
ENST00000270593.1:c.369G= (ACP4) ENSP00000270593.1:p.Leu123=
NM_033068.2:c.369G= (ACP4) NP_149059.1:p.Leu123=
XR_936026.1:n.424+684C=
XR_936026.2:n.434+684C=
NM_033068.3:c.369G= (ACP4) MANE Select NP_149059.1:p.Leu123=