Canonical Allele Identifier: CA407006896
Gene: ACP4 HGNC NCBI
SMIM47 HGNC NCBI

Linked Data

dbSNP Id: rs1430210220
gnomAD v2: 19-51294985-G-A
gnomAD v3: 19-50791728-G-A
gnomAD v4: 19-50791728-G-A
MyVariant Identifiers: chr19:g.51294985G>A (hg19) chr19:g.50791728G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791728G>A , CM000681.2:g.50791728G>A GRCh38
NC_000019.9:g.51294985G>A , CM000681.1:g.51294985G>A GRCh37
NC_000019.8:g.55986797G>A NCBI36
NG_052652.1:g.6314G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.376G>A (ACP4) MANE Select ENSP00000270593.1:p.Glu126Lys
ENST00000636757.1:c.-60+677C>T (SMIM47) ENSP00000489695.1:n.-60+677C>T
ENST00000270593.1:c.376G>A (ACP4) ENSP00000270593.1:p.Glu126Lys
NM_033068.2:c.376G>A (ACP4) NP_149059.1:p.Glu126Lys
XR_936026.1:n.424+677C>T
XR_936026.2:n.434+677C>T
NM_033068.3:c.376G>A (ACP4) MANE Select NP_149059.1:p.Glu126Lys
Search 100 bp 5'
Search 100 bp 3'