Canonical Allele Identifier: CA2586620376
Gene: ACP4 HGNC NCBI
SMIM47 HGNC NCBI

Linked Data

gnomAD v4: 19-50791963-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791963G>T , CM000681.2:g.50791963G>T GRCh38
NC_000019.9:g.51295220G>T , CM000681.1:g.51295220G>T GRCh37
NC_000019.8:g.55987032G>T NCBI36
NG_052652.1:g.6549G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.451-110G>T (ACP4) MANE Select ENSP00000270593.1:n.451-110G>T
ENST00000636757.1:c.-60+442C>A (SMIM47) ENSP00000489695.1:n.-60+442C>A
ENST00000270593.1:c.451-110G>T (ACP4) ENSP00000270593.1:n.451-110G>T
NM_033068.2:c.451-110G>T (ACP4) NP_149059.1:n.451-110G>T
XR_936026.1:n.424+442C>A
XR_936026.2:n.434+442C>A
NM_033068.3:c.451-110G>T (ACP4) MANE Select NP_149059.1:n.451-110G>T
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