Canonical Allele Identifier: CA9602979
Gene: ACP4 HGNC NCBI
SMIM47 HGNC NCBI

Linked Data

dbSNP Id: rs765543620
ExAC: 19:51295095 A / G
gnomAD v2: 19-51295095-A-G
MyVariant Identifiers: chr19:g.51295095A>G (hg19) chr19:g.50791838A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791838A>G , CM000681.2:g.50791838A>G GRCh38
NC_000019.9:g.51295095A>G , CM000681.1:g.51295095A>G GRCh37
NC_000019.8:g.55986907A>G NCBI36
NG_052652.1:g.6424A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.450+36A>G (ACP4) MANE Select ENSP00000270593.1:n.450+36A>G
ENST00000636757.1:c.-60+567T>C (SMIM47) ENSP00000489695.1:n.-60+567T>C
ENST00000270593.1:c.450+36A>G (ACP4) ENSP00000270593.1:n.450+36A>G
NM_033068.2:c.450+36A>G (ACP4) NP_149059.1:n.450+36A>G
XR_936026.1:n.424+567T>C
XR_936026.2:n.434+567T>C
NM_033068.3:c.450+36A>G (ACP4) MANE Select NP_149059.1:n.450+36A>G
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