Canonical Allele Identifier: CA9602957
Gene: ACP4 HGNC NCBI
SMIM47 HGNC NCBI

Linked Data

dbSNP Id: rs761131812
ExAC: 19:51295036 A / G
gnomAD v2: 19-51295036-A-G
gnomAD v4: 19-50791779-A-G
MyVariant Identifiers: chr19:g.51295036A>G (hg19) chr19:g.50791779A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791779A>G , CM000681.2:g.50791779A>G GRCh38
NC_000019.9:g.51295036A>G , CM000681.1:g.51295036A>G GRCh37
NC_000019.8:g.55986848A>G NCBI36
NG_052652.1:g.6365A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.427A>G (ACP4) MANE Select ENSP00000270593.1:p.Thr143Ala
ENST00000636757.1:c.-60+626T>C (SMIM47) ENSP00000489695.1:n.-60+626T>C
ENST00000270593.1:c.427A>G (ACP4) ENSP00000270593.1:p.Thr143Ala
NM_033068.2:c.427A>G (ACP4) NP_149059.1:p.Thr143Ala
XR_936026.1:n.424+626T>C
XR_936026.2:n.434+626T>C
NM_033068.3:c.427A>G (ACP4) MANE Select NP_149059.1:p.Thr143Ala
Search 100 bp 5'
Search 100 bp 3'