Canonical Allele Identifier: CA508200998

Gene: ACP4 SMIM47

Linked Data

• dbSNP Id: rs2089509346
• MyVariant Identifiers: chr19:g.51294993T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50791736T>C , CM000681.2:g.50791736T>C	GRCh38
NC_000019.9:g.51294993T>C , CM000681.1:g.51294993T>C	GRCh37
NC_000019.8:g.55986805T>C	NCBI36
NG_052652.1:g.6322T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270593.2:c.384T>C (ACP4) MANE Select	ENSP00000270593.1:p.Ala128=
ENST00000636757.1:c.-60+669A>G (SMIM47)	ENSP00000489695.1:n.-60+669A>G
ENST00000270593.1:c.384T>C (ACP4)	ENSP00000270593.1:p.Ala128=
NM_033068.2:c.384T>C (ACP4)	NP_149059.1:p.Ala128=
XR_936026.1:n.424+669A>G
XR_936026.2:n.434+669A>G
NM_033068.3:c.384T>C (ACP4) MANE Select	NP_149059.1:p.Ala128=