Canonical Allele Identifier: CA2586620353
Gene: ACP4 HGNC NCBI
SMIM47 HGNC NCBI

Linked Data

gnomAD v4: 19-50791941-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791941C>A , CM000681.2:g.50791941C>A GRCh38
NC_000019.9:g.51295198C>A , CM000681.1:g.51295198C>A GRCh37
NC_000019.8:g.55987010C>A NCBI36
NG_052652.1:g.6527C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.451-132C>A (ACP4) MANE Select ENSP00000270593.1:n.451-132C>A
ENST00000636757.1:c.-60+464G>T (SMIM47) ENSP00000489695.1:n.-60+464G>T
ENST00000270593.1:c.451-132C>A (ACP4) ENSP00000270593.1:n.451-132C>A
NM_033068.2:c.451-132C>A (ACP4) NP_149059.1:n.451-132C>A
XR_936026.1:n.424+464G>T
XR_936026.2:n.434+464G>T
NM_033068.3:c.451-132C>A (ACP4) MANE Select NP_149059.1:n.451-132C>A
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