Canonical Allele Identifier: CA508200953
Gene: ACP4 HGNC NCBI
SMIM47 HGNC NCBI

Linked Data

dbSNP Id: rs1281712654
gnomAD v4: 19-50791697-T-C
MyVariant Identifiers: chr19:g.51294954T>C (hg19) chr19:g.50791697T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791697T>C , CM000681.2:g.50791697T>C GRCh38
NC_000019.9:g.51294954T>C , CM000681.1:g.51294954T>C GRCh37
NC_000019.8:g.55986766T>C NCBI36
NG_052652.1:g.6283T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.345T>C (ACP4) MANE Select ENSP00000270593.1:p.Ser115=
ENST00000636757.1:c.-60+708A>G (SMIM47) ENSP00000489695.1:n.-60+708A>G
ENST00000270593.1:c.345T>C (ACP4) ENSP00000270593.1:p.Ser115=
NM_033068.2:c.345T>C (ACP4) NP_149059.1:p.Ser115=
XR_936026.1:n.424+708A>G
XR_936026.2:n.434+708A>G
NM_033068.3:c.345T>C (ACP4) MANE Select NP_149059.1:p.Ser115=
Search 100 bp 5'
Search 100 bp 3'