Canonical Allele Identifier: CA407008996

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791768T>A , CM000681.2:g.50791768T>A GRCh38
NC_000019.9:g.51295025T>A , CM000681.1:g.51295025T>A GRCh37
NC_000019.8:g.55986837T>A NCBI36
NG_052652.1:g.6354T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.416T>A (ACP4) MANE Select ENSP00000270593.1:p.Ile139Asn
ENST00000636757.1:c.-60+637A>T (SMIM47) ENSP00000489695.1:n.-60+637A>T
ENST00000270593.1:c.416T>A (ACP4) ENSP00000270593.1:p.Ile139Asn
NM_033068.2:c.416T>A (ACP4) NP_149059.1:p.Ile139Asn
XR_936026.1:n.424+637A>T
XR_936026.2:n.434+637A>T
NM_033068.3:c.416T>A (ACP4) MANE Select NP_149059.1:p.Ile139Asn