Canonical Allele Identifier: CA9602958
Gene: ACP4 HGNC NCBI
SMIM47 HGNC NCBI

Linked Data

ClinVar Variation Id: 375700
ClinVar RCV Id: RCV000489568
dbSNP Id: rs546603773
ExAC: 19:51295037 C / T
gnomAD v2: 19-51295037-C-T
gnomAD v3: 19-50791780-C-T
gnomAD v4: 19-50791780-C-T
COSMIC: COSM5782379
MyVariant Identifiers: chr19:g.51295037C>T (hg19) chr19:g.50791780C>T (hg38)
PubMed: PMID:28513613
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791780C>T , CM000681.2:g.50791780C>T GRCh38
NC_000019.9:g.51295037C>T , CM000681.1:g.51295037C>T GRCh37
NC_000019.8:g.55986849C>T NCBI36
NG_052652.1:g.6366C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000270593.2:c.428C>T (ACP4) MANE Select ENSP00000270593.1:p.Thr143Met
ENST00000636757.1:c.-60+625G>A (SMIM47) ENSP00000489695.1:n.-60+625G>A
ENST00000270593.1:c.428C>T (ACP4) ENSP00000270593.1:p.Thr143Met
NM_033068.2:c.428C>T (ACP4) NP_149059.1:p.Thr143Met
XR_936026.1:n.424+625G>A
XR_936026.2:n.434+625G>A
NM_033068.3:c.428C>T (ACP4) MANE Select NP_149059.1:p.Thr143Met
Search 100 bp 5'
Search 100 bp 3'