Canonical Allele Identifier: CA2586620154

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791541T>C , CM000681.2:g.50791541T>C GRCh38
NC_000019.9:g.51294798T>C , CM000681.1:g.51294798T>C GRCh37
NC_000019.8:g.55986610T>C NCBI36
NG_052652.1:g.6127T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.304-115T>C (ACP4) MANE Select ENSP00000270593.1:n.304-115T>C
ENST00000636757.1:c.-60+864A>G (SMIM47) ENSP00000489695.1:n.-60+864A>G
ENST00000270593.1:c.304-115T>C (ACP4) ENSP00000270593.1:n.304-115T>C
NM_033068.2:c.304-115T>C (ACP4) NP_149059.1:n.304-115T>C
XR_936026.1:n.424+864A>G
XR_936026.2:n.434+864A>G
NM_033068.3:c.304-115T>C (ACP4) MANE Select NP_149059.1:n.304-115T>C