Canonical Allele Identifier: CA508200956
Gene: ACP4 HGNC NCBI
SMIM47 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.51294957C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791700C>T , CM000681.2:g.50791700C>T GRCh38
NC_000019.9:g.51294957C>T , CM000681.1:g.51294957C>T GRCh37
NC_000019.8:g.55986769C>T NCBI36
NG_052652.1:g.6286C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.348C>T (ACP4) MANE Select ENSP00000270593.1:p.Ala116=
ENST00000636757.1:c.-60+705G>A (SMIM47) ENSP00000489695.1:n.-60+705G>A
ENST00000270593.1:c.348C>T (ACP4) ENSP00000270593.1:p.Ala116=
NM_033068.2:c.348C>T (ACP4) NP_149059.1:p.Ala116=
XR_936026.1:n.424+705G>A
XR_936026.2:n.434+705G>A
NM_033068.3:c.348C>T (ACP4) MANE Select NP_149059.1:p.Ala116=
Search 100 bp 5'
Search 100 bp 3'