Canonical Allele Identifier: CA407006504
Gene: ACP4 HGNC NCBI
SMIM47 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.51294932A>C (hg19) chr19:g.50791675A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791675A>C , CM000681.2:g.50791675A>C GRCh38
NC_000019.9:g.51294932A>C , CM000681.1:g.51294932A>C GRCh37
NC_000019.8:g.55986744A>C NCBI36
NG_052652.1:g.6261A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.323A>C (ACP4) MANE Select ENSP00000270593.1:p.Asp108Ala
ENST00000636757.1:c.-60+730T>G (SMIM47) ENSP00000489695.1:n.-60+730T>G
ENST00000270593.1:c.323A>C (ACP4) ENSP00000270593.1:p.Asp108Ala
NM_033068.2:c.323A>C (ACP4) NP_149059.1:p.Asp108Ala
XR_936026.1:n.424+730T>G
XR_936026.2:n.434+730T>G
NM_033068.3:c.323A>C (ACP4) MANE Select NP_149059.1:p.Asp108Ala
Search 100 bp 5'
Search 100 bp 3'