Canonical Allele Identifier: CA883239647
Gene: ACP4 HGNC NCBI
SMIM47 HGNC NCBI

Linked Data

dbSNP Id: rs1301014381
gnomAD v4: 19-50791934-C-G
MyVariant Identifiers: chr19:g.51295191C>G (hg19) chr19:g.50791934C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791934C>G , CM000681.2:g.50791934C>G GRCh38
NC_000019.9:g.51295191C>G , CM000681.1:g.51295191C>G GRCh37
NC_000019.8:g.55987003C>G NCBI36
NG_052652.1:g.6520C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.450+132C>G (ACP4) MANE Select ENSP00000270593.1:n.450+132C>G
ENST00000636757.1:c.-60+471G>C (SMIM47) ENSP00000489695.1:n.-60+471G>C
ENST00000270593.1:c.450+132C>G (ACP4) ENSP00000270593.1:n.450+132C>G
NM_033068.2:c.450+132C>G (ACP4) NP_149059.1:n.450+132C>G
XR_936026.1:n.424+471G>C
XR_936026.2:n.434+471G>C
NM_033068.3:c.450+132C>G (ACP4) MANE Select NP_149059.1:n.450+132C>G
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