Canonical Allele Identifier: CA996824960
Gene: ACP4 HGNC NCBI
SMIM47 HGNC NCBI

Linked Data

dbSNP Id: rs2089507379
gnomAD v3: 19-50791627-C-T
gnomAD v4: 19-50791627-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791627C>T , CM000681.2:g.50791627C>T GRCh38
NC_000019.9:g.51294884C>T , CM000681.1:g.51294884C>T GRCh37
NC_000019.8:g.55986696C>T NCBI36
NG_052652.1:g.6213C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.304-29C>T (ACP4) MANE Select ENSP00000270593.1:n.304-29C>T
ENST00000636757.1:c.-60+778G>A (SMIM47) ENSP00000489695.1:n.-60+778G>A
ENST00000270593.1:c.304-29C>T (ACP4) ENSP00000270593.1:n.304-29C>T
NM_033068.2:c.304-29C>T (ACP4) NP_149059.1:n.304-29C>T
XR_936026.1:n.424+778G>A
XR_936026.2:n.434+778G>A
NM_033068.3:c.304-29C>T (ACP4) MANE Select NP_149059.1:n.304-29C>T
Search 100 bp 5'
Search 100 bp 3'