Canonical Allele Identifier: CA713828004
Community Standard Title: NM_001080534.3(UNC13C):c.4713+9835T>C
Gene: UNC13C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.54348324T>C , CM000677.2:g.54348324T>C GRCh38
NC_000015.9:g.54640522T>C , CM000677.1:g.54640522T>C GRCh37
NC_000015.8:g.52427814T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001080534.3:c.4713+9835T>C MANE Select NP_001074003.1:n.4713+9835T>C
ENST00000260323.16:c.4713+9835T>C MANE Select ENSP00000260323.11:n.4713+9835T>C
NM_001080534.1:c.4713+9835T>C NP_001074003.1:n.4713+9835T>C
NM_001080534.2:c.4713+9835T>C NP_001074003.1:n.4713+9835T>C
NM_001329919.1:c.4707+9835T>C NP_001316848.1:n.4707+9835T>C
NM_001329919.2:c.4707+9835T>C NP_001316848.1:n.4707+9835T>C
ENST00000260323.15:c.4713+9835T>C ENSP00000260323.11:n.4713+9835T>C
ENST00000561210.1:n.1288+9835T>C
ENST00000647821.1:c.4707+9835T>C ENSP00000497525.1:n.4707+9835T>C
XM_005254394.3:c.4713+9835T>C XP_005254451.1:n.4713+9835T>C
XM_005254394.5:c.4713+9835T>C XP_005254451.1:n.4713+9835T>C
XM_005254395.3:c.4713+9835T>C XP_005254452.1:n.4713+9835T>C
XM_017022220.1:c.4713+9835T>C XP_016877709.1:n.4713+9835T>C
XM_017022221.1:c.4713+9835T>C XP_016877710.1:n.4713+9835T>C
XM_017022222.1:c.4713+9835T>C XP_016877711.1:n.4713+9835T>C
XM_017022223.1:c.4707+9835T>C XP_016877712.1:n.4707+9835T>C
XM_017022225.1:c.1611+9835T>C XP_016877714.1:n.1611+9835T>C
XR_001751291.1:n.10896+9835T>C