Canonical Allele Identifier: CA407008926

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791752G>C , CM000681.2:g.50791752G>C GRCh38
NC_000019.9:g.51295009G>C , CM000681.1:g.51295009G>C GRCh37
NC_000019.8:g.55986821G>C NCBI36
NG_052652.1:g.6338G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.400G>C (ACP4) MANE Select ENSP00000270593.1:p.Ala134Pro
ENST00000636757.1:c.-60+653C>G (SMIM47) ENSP00000489695.1:n.-60+653C>G
ENST00000270593.1:c.400G>C (ACP4) ENSP00000270593.1:p.Ala134Pro
NM_033068.2:c.400G>C (ACP4) NP_149059.1:p.Ala134Pro
XR_936026.1:n.424+653C>G
XR_936026.2:n.434+653C>G
NM_033068.3:c.400G>C (ACP4) MANE Select NP_149059.1:p.Ala134Pro