Canonical Allele Identifier: CA407006651
Gene: ACP4 HGNC NCBI
SMIM47 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.51294951G>T (hg19) chr19:g.50791694G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791694G>T , CM000681.2:g.50791694G>T GRCh38
NC_000019.9:g.51294951G>T , CM000681.1:g.51294951G>T GRCh37
NC_000019.8:g.55986763G>T NCBI36
NG_052652.1:g.6280G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.342G>T (ACP4) MANE Select ENSP00000270593.1:p.Glu114Asp
ENST00000636757.1:c.-60+711C>A (SMIM47) ENSP00000489695.1:n.-60+711C>A
ENST00000270593.1:c.342G>T (ACP4) ENSP00000270593.1:p.Glu114Asp
NM_033068.2:c.342G>T (ACP4) NP_149059.1:p.Glu114Asp
XR_936026.1:n.424+711C>A
XR_936026.2:n.434+711C>A
NM_033068.3:c.342G>T (ACP4) MANE Select NP_149059.1:p.Glu114Asp
Search 100 bp 5'
Search 100 bp 3'