Canonical Allele Identifier: CA9602910
Gene: ACP4 HGNC NCBI
SMIM47 HGNC NCBI

Linked Data

dbSNP Id: rs767086626
ExAC: 19:51294889 T / C
gnomAD v2: 19-51294889-T-C
gnomAD v3: 19-50791632-T-C
gnomAD v4: 19-50791632-T-C
MyVariant Identifiers: chr19:g.51294889T>C (hg19) chr19:g.50791632T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791632T>C , CM000681.2:g.50791632T>C GRCh38
NC_000019.9:g.51294889T>C , CM000681.1:g.51294889T>C GRCh37
NC_000019.8:g.55986701T>C NCBI36
NG_052652.1:g.6218T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.304-24T>C (ACP4) MANE Select ENSP00000270593.1:n.304-24T>C
ENST00000636757.1:c.-60+773A>G (SMIM47) ENSP00000489695.1:n.-60+773A>G
ENST00000270593.1:c.304-24T>C (ACP4) ENSP00000270593.1:n.304-24T>C
NM_033068.2:c.304-24T>C (ACP4) NP_149059.1:n.304-24T>C
XR_936026.1:n.424+773A>G
XR_936026.2:n.434+773A>G
NM_033068.3:c.304-24T>C (ACP4) MANE Select NP_149059.1:n.304-24T>C
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