Canonical Allele Identifier: CA618278173
Community Standard Title: NM_001080534.3(UNC13C):c.2984-46820T>G
Gene: UNC13C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.54096198T>G , CM000677.2:g.54096198T>G GRCh38
NC_000015.9:g.54388395T>G , CM000677.1:g.54388395T>G GRCh37
NC_000015.8:g.52175687T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001080534.3:c.2984-46820T>G MANE Select NP_001074003.1:n.2984-46820T>G
ENST00000260323.16:c.2984-46820T>G MANE Select ENSP00000260323.11:n.2984-46820T>G
NM_001080534.1:c.2984-46820T>G NP_001074003.1:n.2984-46820T>G
NM_001080534.2:c.2984-46820T>G NP_001074003.1:n.2984-46820T>G
NM_001329919.1:c.2984-46820T>G NP_001316848.1:n.2984-46820T>G
NM_001329919.2:c.2984-46820T>G NP_001316848.1:n.2984-46820T>G
ENST00000260323.15:c.2984-46820T>G ENSP00000260323.11:n.2984-46820T>G
ENST00000647821.1:c.2984-46820T>G ENSP00000497525.1:n.2984-46820T>G
XM_005254394.3:c.2984-46820T>G XP_005254451.1:n.2984-46820T>G
XM_005254394.5:c.2984-46820T>G XP_005254451.1:n.2984-46820T>G
XM_005254395.3:c.2984-46820T>G XP_005254452.1:n.2984-46820T>G
XM_017022220.1:c.2984-46820T>G XP_016877709.1:n.2984-46820T>G
XM_017022221.1:c.2984-46820T>G XP_016877710.1:n.2984-46820T>G
XM_017022222.1:c.2984-46820T>G XP_016877711.1:n.2984-46820T>G
XM_017022223.1:c.2984-46820T>G XP_016877712.1:n.2984-46820T>G
XM_017022225.1:c.-32+80312T>G XP_016877714.1:n.-32+80312T>G
XR_001751291.1:n.9167-46820T>G