Canonical Allele Identifier: CA508200968
Gene: ACP4 HGNC NCBI
SMIM47 HGNC NCBI

Linked Data

dbSNP Id: rs1224551026
gnomAD v3: 19-50791719-C-T
gnomAD v4: 19-50791719-C-T
MyVariant Identifiers: chr19:g.51294976C>T (hg19) chr19:g.50791719C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791719C>T , CM000681.2:g.50791719C>T GRCh38
NC_000019.9:g.51294976C>T , CM000681.1:g.51294976C>T GRCh37
NC_000019.8:g.55986788C>T NCBI36
NG_052652.1:g.6305C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.367C>T (ACP4) MANE Select ENSP00000270593.1:p.Leu123=
ENST00000636757.1:c.-60+686G>A (SMIM47) ENSP00000489695.1:n.-60+686G>A
ENST00000270593.1:c.367C>T (ACP4) ENSP00000270593.1:p.Leu123=
NM_033068.2:c.367C>T (ACP4) NP_149059.1:p.Leu123=
XR_936026.1:n.424+686G>A
XR_936026.2:n.434+686G>A
NM_033068.3:c.367C>T (ACP4) MANE Select NP_149059.1:p.Leu123=
Search 100 bp 5'
Search 100 bp 3'