Canonical Allele Identifier: CA2586620366
Gene: ACP4 HGNC NCBI
SMIM47 HGNC NCBI

Linked Data

gnomAD v4: 19-50791954-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791954C>A , CM000681.2:g.50791954C>A GRCh38
NC_000019.9:g.51295211C>A , CM000681.1:g.51295211C>A GRCh37
NC_000019.8:g.55987023C>A NCBI36
NG_052652.1:g.6540C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.451-119C>A (ACP4) MANE Select ENSP00000270593.1:n.451-119C>A
ENST00000636757.1:c.-60+451G>T (SMIM47) ENSP00000489695.1:n.-60+451G>T
ENST00000270593.1:c.451-119C>A (ACP4) ENSP00000270593.1:n.451-119C>A
NM_033068.2:c.451-119C>A (ACP4) NP_149059.1:n.451-119C>A
XR_936026.1:n.424+451G>T
XR_936026.2:n.434+451G>T
NM_033068.3:c.451-119C>A (ACP4) MANE Select NP_149059.1:n.451-119C>A
Search 100 bp 5'
Search 100 bp 3'