Canonical Allele Identifier: CA490531052
Gene: UNC13C HGNC NCBI

Linked Data

dbSNP Id: rs1897031
MyVariant Identifiers: chr15:g.54341465G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.54049268G>C , CM000677.2:g.54049268G>C GRCh38
NC_000015.9:g.54341465G>C , CM000677.1:g.54341465G>C GRCh37
NC_000015.8:g.52128757G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000260323.16:c.2983+33382G>C MANE Select ENSP00000260323.11:n.2983+33382G>C
ENST00000647821.1:c.2983+33382G>C ENSP00000497525.1:n.2983+33382G>C
ENST00000260323.15:c.2983+33382G>C ENSP00000260323.11:n.2983+33382G>C
ENST00000558038.2:n.1609C>G
NM_001080534.1:c.2983+33382G>C NP_001074003.1:n.2983+33382G>C
XM_005254394.3:c.2983+33382G>C XP_005254451.1:n.2983+33382G>C
XM_005254395.3:c.2983+33382G>C XP_005254452.1:n.2983+33382G>C
NM_001080534.2:c.2983+33382G>C NP_001074003.1:n.2983+33382G>C
NM_001329919.1:c.2983+33382G>C NP_001316848.1:n.2983+33382G>C
XM_005254394.5:c.2983+33382G>C XP_005254451.1:n.2983+33382G>C
XM_017022220.1:c.2983+33382G>C XP_016877709.1:n.2983+33382G>C
XM_017022221.1:c.2983+33382G>C XP_016877710.1:n.2983+33382G>C
XM_017022222.1:c.2983+33382G>C XP_016877711.1:n.2983+33382G>C
XM_017022223.1:c.2983+33382G>C XP_016877712.1:n.2983+33382G>C
XM_017022225.1:c.-32+33382G>C XP_016877714.1:n.-32+33382G>C
XR_001751291.1:n.9166+33382G>C
NM_001329919.2:c.2983+33382G>C NP_001316848.1:n.2983+33382G>C
NM_001080534.3:c.2983+33382G>C MANE Select NP_001074003.1:n.2983+33382G>C