Canonical Allele Identifier: CA407009025

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791774T>G , CM000681.2:g.50791774T>G GRCh38
NC_000019.9:g.51295031T>G , CM000681.1:g.51295031T>G GRCh37
NC_000019.8:g.55986843T>G NCBI36
NG_052652.1:g.6360T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.422T>G (ACP4) MANE Select ENSP00000270593.1:p.Val141Gly
ENST00000636757.1:c.-60+631A>C (SMIM47) ENSP00000489695.1:n.-60+631A>C
ENST00000270593.1:c.422T>G (ACP4) ENSP00000270593.1:p.Val141Gly
NM_033068.2:c.422T>G (ACP4) NP_149059.1:p.Val141Gly
XR_936026.1:n.424+631A>C
XR_936026.2:n.434+631A>C
NM_033068.3:c.422T>G (ACP4) MANE Select NP_149059.1:p.Val141Gly