Canonical Allele Identifier: CA508200961
Gene: ACP4 HGNC NCBI
SMIM47 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.51294969T>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791712T>A , CM000681.2:g.50791712T>A GRCh38
NC_000019.9:g.51294969T>A , CM000681.1:g.51294969T>A GRCh37
NC_000019.8:g.55986781T>A NCBI36
NG_052652.1:g.6298T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.360T>A (ACP4) MANE Select ENSP00000270593.1:p.Leu120=
ENST00000636757.1:c.-60+693A>T (SMIM47) ENSP00000489695.1:n.-60+693A>T
ENST00000270593.1:c.360T>A (ACP4) ENSP00000270593.1:p.Leu120=
NM_033068.2:c.360T>A (ACP4) NP_149059.1:p.Leu120=
XR_936026.1:n.424+693A>T
XR_936026.2:n.434+693A>T
NM_033068.3:c.360T>A (ACP4) MANE Select NP_149059.1:p.Leu120=
Search 100 bp 5'
Search 100 bp 3'