Canonical Allele Identifier: CA309629366
Gene: ACP4 HGNC NCBI
SMIM47 HGNC NCBI

Linked Data

dbSNP Id: rs368495954
gnomAD v2: 19-51295130-G-A
gnomAD v3: 19-50791873-G-A
gnomAD v4: 19-50791873-G-A
COSMIC: COSN24765977
MyVariant Identifiers: chr19:g.51295130G>A (hg19) chr19:g.50791873G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791873G>A , CM000681.2:g.50791873G>A GRCh38
NC_000019.9:g.51295130G>A , CM000681.1:g.51295130G>A GRCh37
NC_000019.8:g.55986942G>A NCBI36
NG_052652.1:g.6459G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.450+71G>A (ACP4) MANE Select ENSP00000270593.1:n.450+71G>A
ENST00000636757.1:c.-60+532C>T (SMIM47) ENSP00000489695.1:n.-60+532C>T
ENST00000270593.1:c.450+71G>A (ACP4) ENSP00000270593.1:n.450+71G>A
NM_033068.2:c.450+71G>A (ACP4) NP_149059.1:n.450+71G>A
XR_936026.1:n.424+532C>T
XR_936026.2:n.434+532C>T
NM_033068.3:c.450+71G>A (ACP4) MANE Select NP_149059.1:n.450+71G>A
Search 100 bp 5'
Search 100 bp 3'