Canonical Allele Identifier: CA2341080533

Linked Data

dbSNP Id: rs368495954

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791873G>C , CM000681.2:g.50791873G>C GRCh38
NC_000019.9:g.51295130G>C , CM000681.1:g.51295130G>C GRCh37
NC_000019.8:g.55986942G>C NCBI36
NG_052652.1:g.6459G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.450+71G>C (ACP4) MANE Select ENSP00000270593.1:n.450+71G>C
ENST00000636757.1:c.-60+532C>G (SMIM47) ENSP00000489695.1:n.-60+532C>G
ENST00000270593.1:c.450+71G>C (ACP4) ENSP00000270593.1:n.450+71G>C
NM_033068.2:c.450+71G>C (ACP4) NP_149059.1:n.450+71G>C
XR_936026.1:n.424+532C>G
XR_936026.2:n.434+532C>G
NM_033068.3:c.450+71G>C (ACP4) MANE Select NP_149059.1:n.450+71G>C