Canonical Allele Identifier: CA407009083

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791788G>T , CM000681.2:g.50791788G>T GRCh38
NC_000019.9:g.51295045G>T , CM000681.1:g.51295045G>T GRCh37
NC_000019.8:g.55986857G>T NCBI36
NG_052652.1:g.6374G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.436G>T (ACP4) MANE Select ENSP00000270593.1:p.Val146Leu
ENST00000636757.1:c.-60+617C>A (SMIM47) ENSP00000489695.1:n.-60+617C>A
ENST00000270593.1:c.436G>T (ACP4) ENSP00000270593.1:p.Val146Leu
NM_033068.2:c.436G>T (ACP4) NP_149059.1:p.Val146Leu
XR_936026.1:n.424+617C>A
XR_936026.2:n.434+617C>A
NM_033068.3:c.436G>T (ACP4) MANE Select NP_149059.1:p.Val146Leu