Canonical Allele Identifier: CA407009001
Gene: ACP4 HGNC NCBI
SMIM47 HGNC NCBI

Linked Data

dbSNP Id: rs1449685112
MyVariant Identifiers: chr19:g.51295026C>G (hg19) chr19:g.50791769C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791769C>G , CM000681.2:g.50791769C>G GRCh38
NC_000019.9:g.51295026C>G , CM000681.1:g.51295026C>G GRCh37
NC_000019.8:g.55986838C>G NCBI36
NG_052652.1:g.6355C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.417C>G (ACP4) MANE Select ENSP00000270593.1:p.Ile139Met
ENST00000636757.1:c.-60+636G>C (SMIM47) ENSP00000489695.1:n.-60+636G>C
ENST00000270593.1:c.417C>G (ACP4) ENSP00000270593.1:p.Ile139Met
NM_033068.2:c.417C>G (ACP4) NP_149059.1:p.Ile139Met
XR_936026.1:n.424+636G>C
XR_936026.2:n.434+636G>C
NM_033068.3:c.417C>G (ACP4) MANE Select NP_149059.1:p.Ile139Met
Search 100 bp 5'
Search 100 bp 3'