Canonical Allele Identifier: CA9602946
Gene: ACP4 HGNC NCBI
SMIM47 HGNC NCBI

Linked Data

ClinVar Variation Id: 374866
ClinVar RCV Id: RCV000415549
dbSNP Id: rs779823931
ExAC: 19:51295006 G / A
gnomAD v2: 19-51295006-G-A
gnomAD v3: 19-50791749-G-A
gnomAD v4: 19-50791749-G-A
COSMIC: COSM5952295
MyVariant Identifiers: chr19:g.51295006G>A (hg19) chr19:g.50791749G>A (hg38)
PubMed: PMID:27843125
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791749G>A , CM000681.2:g.50791749G>A GRCh38
NC_000019.9:g.51295006G>A , CM000681.1:g.51295006G>A GRCh37
NC_000019.8:g.55986818G>A NCBI36
NG_052652.1:g.6335G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000270593.2:c.397G>A (ACP4) MANE Select ENSP00000270593.1:p.Glu133Lys
ENST00000636757.1:c.-60+656C>T (SMIM47) ENSP00000489695.1:n.-60+656C>T
ENST00000270593.1:c.397G>A (ACP4) ENSP00000270593.1:p.Glu133Lys
NM_033068.2:c.397G>A (ACP4) NP_149059.1:p.Glu133Lys
XR_936026.1:n.424+656C>T
XR_936026.2:n.434+656C>T
NM_033068.3:c.397G>A (ACP4) MANE Select NP_149059.1:p.Glu133Lys
Search 100 bp 5'
Search 100 bp 3'