Canonical Allele Identifier: CA9602966

Gene: ACP4 SMIM47

Linked Data

• ClinVar Variation Id: 2522132
• ClinVar RCV Id: RCV004295281
• dbSNP Id: rs754892926
• ExAC: 19:51295057 A / G
• gnomAD v2: 19-51295057-A-G
• gnomAD v3: 19-50791800-A-G
• gnomAD v4: 19-50791800-A-G
• MyVariant Identifiers: chr19:g.51295057A>G (hg19) ; chr19:g.50791800A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50791800A>G , CM000681.2:g.50791800A>G	GRCh38
NC_000019.9:g.51295057A>G , CM000681.1:g.51295057A>G	GRCh37
NC_000019.8:g.55986869A>G	NCBI36
NG_052652.1:g.6386A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270593.2:c.448A>G (ACP4) MANE Select	ENSP00000270593.1:p.Lys150Glu
ENST00000636757.1:c.-60+605T>C (SMIM47)	ENSP00000489695.1:n.-60+605T>C
ENST00000270593.1:c.448A>G (ACP4)	ENSP00000270593.1:p.Lys150Glu
NM_033068.2:c.448A>G (ACP4)	NP_149059.1:p.Lys150Glu
XR_936026.1:n.424+605T>C
XR_936026.2:n.434+605T>C
NM_033068.3:c.448A>G (ACP4) MANE Select	NP_149059.1:p.Lys150Glu