Canonical Allele Identifier: CA407006399
Gene: ACP4 HGNC NCBI
SMIM47 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.51294917A>T (hg19) chr19:g.50791660A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791660A>T , CM000681.2:g.50791660A>T GRCh38
NC_000019.9:g.51294917A>T , CM000681.1:g.51294917A>T GRCh37
NC_000019.8:g.55986729A>T NCBI36
NG_052652.1:g.6246A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.308A>T (ACP4) MANE Select ENSP00000270593.1:p.Tyr103Phe
ENST00000636757.1:c.-60+745T>A (SMIM47) ENSP00000489695.1:n.-60+745T>A
ENST00000270593.1:c.308A>T (ACP4) ENSP00000270593.1:p.Tyr103Phe
NM_033068.2:c.308A>T (ACP4) NP_149059.1:p.Tyr103Phe
XR_936026.1:n.424+745T>A
XR_936026.2:n.434+745T>A
NM_033068.3:c.308A>T (ACP4) MANE Select NP_149059.1:p.Tyr103Phe
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