Canonical Allele Identifier: CA2341080486
Gene: ACP4 HGNC NCBI
SMIM47 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791790G= , CM000681.2:g.50791790G= GRCh38
NC_000019.9:g.51295047G= , CM000681.1:g.51295047G= GRCh37
NC_000019.8:g.55986859G= NCBI36
NG_052652.1:g.6376G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.438G= (ACP4) MANE Select ENSP00000270593.1:p.Val146=
ENST00000636757.1:c.-60+615C= (SMIM47) ENSP00000489695.1:n.-60+615C=
ENST00000270593.1:c.438G= (ACP4) ENSP00000270593.1:p.Val146=
NM_033068.2:c.438G= (ACP4) NP_149059.1:p.Val146=
XR_936026.1:n.424+615C=
XR_936026.2:n.434+615C=
NM_033068.3:c.438G= (ACP4) MANE Select NP_149059.1:p.Val146=
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