Canonical Allele Identifier: CA9602949
Gene: ACP4 HGNC NCBI
SMIM47 HGNC NCBI

Linked Data

dbSNP Id: rs149222498
ExAC: 19:51295012 C / T
gnomAD v2: 19-51295012-C-T
gnomAD v3: 19-50791755-C-T
gnomAD v4: 19-50791755-C-T
MyVariant Identifiers: chr19:g.51295012C>T (hg19) chr19:g.50791755C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791755C>T , CM000681.2:g.50791755C>T GRCh38
NC_000019.9:g.51295012C>T , CM000681.1:g.51295012C>T GRCh37
NC_000019.8:g.55986824C>T NCBI36
NG_052652.1:g.6341C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.403C>T (ACP4) MANE Select ENSP00000270593.1:p.Arg135Cys
ENST00000636757.1:c.-60+650G>A (SMIM47) ENSP00000489695.1:n.-60+650G>A
ENST00000270593.1:c.403C>T (ACP4) ENSP00000270593.1:p.Arg135Cys
NM_033068.2:c.403C>T (ACP4) NP_149059.1:p.Arg135Cys
XR_936026.1:n.424+650G>A
XR_936026.2:n.434+650G>A
NM_033068.3:c.403C>T (ACP4) MANE Select NP_149059.1:p.Arg135Cys
Search 100 bp 5'
Search 100 bp 3'