Canonical Allele Identifier: CA883239648
Gene: ACP4 HGNC NCBI
SMIM47 HGNC NCBI

Linked Data

dbSNP Id: rs1233246146
gnomAD v3: 19-50791937-C-T
gnomAD v4: 19-50791937-C-T
MyVariant Identifiers: chr19:g.51295194C>T (hg19) chr19:g.50791937C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791937C>T , CM000681.2:g.50791937C>T GRCh38
NC_000019.9:g.51295194C>T , CM000681.1:g.51295194C>T GRCh37
NC_000019.8:g.55987006C>T NCBI36
NG_052652.1:g.6523C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.451-136C>T (ACP4) MANE Select ENSP00000270593.1:n.451-136C>T
ENST00000636757.1:c.-60+468G>A (SMIM47) ENSP00000489695.1:n.-60+468G>A
ENST00000270593.1:c.451-136C>T (ACP4) ENSP00000270593.1:n.451-136C>T
NM_033068.2:c.451-136C>T (ACP4) NP_149059.1:n.451-136C>T
XR_936026.1:n.424+468G>A
XR_936026.2:n.434+468G>A
NM_033068.3:c.451-136C>T (ACP4) MANE Select NP_149059.1:n.451-136C>T
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Search 100 bp 3'