Canonical Allele Identifier: CA407009088

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791789T>C , CM000681.2:g.50791789T>C GRCh38
NC_000019.9:g.51295046T>C , CM000681.1:g.51295046T>C GRCh37
NC_000019.8:g.55986858T>C NCBI36
NG_052652.1:g.6375T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.437T>C (ACP4) MANE Select ENSP00000270593.1:p.Val146Ala
ENST00000636757.1:c.-60+616A>G (SMIM47) ENSP00000489695.1:n.-60+616A>G
ENST00000270593.1:c.437T>C (ACP4) ENSP00000270593.1:p.Val146Ala
NM_033068.2:c.437T>C (ACP4) NP_149059.1:p.Val146Ala
XR_936026.1:n.424+616A>G
XR_936026.2:n.434+616A>G
NM_033068.3:c.437T>C (ACP4) MANE Select NP_149059.1:p.Val146Ala