Canonical Allele Identifier: CA407006515
Gene: ACP4 HGNC NCBI
SMIM47 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.51294934T>A (hg19) chr19:g.50791677T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791677T>A , CM000681.2:g.50791677T>A GRCh38
NC_000019.9:g.51294934T>A , CM000681.1:g.51294934T>A GRCh37
NC_000019.8:g.55986746T>A NCBI36
NG_052652.1:g.6263T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.325T>A (ACP4) MANE Select ENSP00000270593.1:p.Phe109Ile
ENST00000636757.1:c.-60+728A>T (SMIM47) ENSP00000489695.1:n.-60+728A>T
ENST00000270593.1:c.325T>A (ACP4) ENSP00000270593.1:p.Phe109Ile
NM_033068.2:c.325T>A (ACP4) NP_149059.1:p.Phe109Ile
XR_936026.1:n.424+728A>T
XR_936026.2:n.434+728A>T
NM_033068.3:c.325T>A (ACP4) MANE Select NP_149059.1:p.Phe109Ile
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