Canonical Allele Identifier: CA407008887
Gene: ACP4 HGNC NCBI
SMIM47 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.51295001G>C (hg19) chr19:g.50791744G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791744G>C , CM000681.2:g.50791744G>C GRCh38
NC_000019.9:g.51295001G>C , CM000681.1:g.51295001G>C GRCh37
NC_000019.8:g.55986813G>C NCBI36
NG_052652.1:g.6330G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.392G>C (ACP4) MANE Select ENSP00000270593.1:p.Ser131Thr
ENST00000636757.1:c.-60+661C>G (SMIM47) ENSP00000489695.1:n.-60+661C>G
ENST00000270593.1:c.392G>C (ACP4) ENSP00000270593.1:p.Ser131Thr
NM_033068.2:c.392G>C (ACP4) NP_149059.1:p.Ser131Thr
XR_936026.1:n.424+661C>G
XR_936026.2:n.434+661C>G
NM_033068.3:c.392G>C (ACP4) MANE Select NP_149059.1:p.Ser131Thr
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