Canonical Allele Identifier: CA996825089

Gene: ACP4 SMIM47

Linked Data

• dbSNP Id: rs2089512041
• gnomAD v3: 19-50791917-G-C
• gnomAD v4: 19-50791917-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50791917G>C , CM000681.2:g.50791917G>C	GRCh38
NC_000019.9:g.51295174G>C , CM000681.1:g.51295174G>C	GRCh37
NC_000019.8:g.55986986G>C	NCBI36
NG_052652.1:g.6503G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270593.2:c.450+115G>C (ACP4) MANE Select	ENSP00000270593.1:n.450+115G>C
ENST00000636757.1:c.-60+488C>G (SMIM47)	ENSP00000489695.1:n.-60+488C>G
ENST00000270593.1:c.450+115G>C (ACP4)	ENSP00000270593.1:n.450+115G>C
NM_033068.2:c.450+115G>C (ACP4)	NP_149059.1:n.450+115G>C
XR_936026.1:n.424+488C>G
XR_936026.2:n.434+488C>G
NM_033068.3:c.450+115G>C (ACP4) MANE Select	NP_149059.1:n.450+115G>C