Canonical Allele Identifier: CA2146213458

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.72614360A>C , CM000676.2:g.72614360A>C GRCh38
NC_000014.8:g.73081068A>C , CM000676.1:g.73081068A>C GRCh37
NC_000014.7:g.72150821A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000556509.6:c.*4937T>G (DPF3) MANE Select ENSP00000450518.1:n.*4937T>G
XM_011537193.1:c.*3618+1319T>G (DPF3) XP_011535495.1:n.*3618+1319T>G
XM_017021670.2:c.*3618+1319T>G (DPF3) XP_016877159.1:n.*3618+1319T>G
XM_017021825.2:c.1423-15620A>C (RGS6) XP_016877314.1:n.1423-15620A>C
NM_001280542.3:c.*4937T>G (DPF3) MANE Select NP_001267471.1:n.*4937T>G