Canonical Allele Identifier: CA9602959
Gene: ACP4 HGNC NCBI
SMIM47 HGNC NCBI

Linked Data

dbSNP Id: rs546603773
ExAC: 19:51295037 C / G
gnomAD v2: 19-51295037-C-G
gnomAD v3: 19-50791780-C-G
gnomAD v4: 19-50791780-C-G
MyVariant Identifiers: chr19:g.51295037C>G (hg19) chr19:g.50791780C>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.428C>G (ACP4) MANE Select ENSP00000270593.1:p.Thr143Arg
ENST00000636757.1:c.-60+625G>C (SMIM47) ENSP00000489695.1:n.-60+625G>C
ENST00000270593.1:c.428C>G (ACP4) ENSP00000270593.1:p.Thr143Arg
NM_033068.2:c.428C>G (ACP4) NP_149059.1:p.Thr143Arg
XR_936026.1:n.424+625G>C
XR_936026.2:n.434+625G>C
NM_033068.3:c.428C>G (ACP4) MANE Select NP_149059.1:p.Thr143Arg
Search 100 bp 5'
Search 100 bp 3'