Canonical Allele Identifier: CA9602937
Gene: ACP4 HGNC NCBI
SMIM47 HGNC NCBI

Linked Data

ClinVar Variation Id: 374865
ClinVar RCV Id: RCV000415614
dbSNP Id: rs767907487
ExAC: 19:51294991 G / C
gnomAD v2: 19-51294991-G-C
gnomAD v4: 19-50791734-G-C
MyVariant Identifiers: chr19:g.51294991G>C (hg19) chr19:g.50791734G>C (hg38)
PubMed: PMID:27843125
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791734G>C , CM000681.2:g.50791734G>C GRCh38
NC_000019.9:g.51294991G>C , CM000681.1:g.51294991G>C GRCh37
NC_000019.8:g.55986803G>C NCBI36
NG_052652.1:g.6320G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000270593.2:c.382G>C (ACP4) MANE Select ENSP00000270593.1:p.Ala128Pro
ENST00000636757.1:c.-60+671C>G (SMIM47) ENSP00000489695.1:n.-60+671C>G
ENST00000270593.1:c.382G>C (ACP4) ENSP00000270593.1:p.Ala128Pro
NM_033068.2:c.382G>C (ACP4) NP_149059.1:p.Ala128Pro
XR_936026.1:n.424+671C>G
XR_936026.2:n.434+671C>G
NM_033068.3:c.382G>C (ACP4) MANE Select NP_149059.1:p.Ala128Pro
Search 100 bp 5'
Search 100 bp 3'