Canonical Allele Identifier: CA271092658

Gene: UNC13C

Linked Data

• dbSNP Id: rs1897031
• gnomAD v2: 15-54341465-G-A
• gnomAD v3: 15-54049268-G-A
• gnomAD v4: 15-54049268-G-A
• MyVariant Identifiers: chr15:g.54341465G>A (hg19) ; chr15:g.54049268G>A (hg38)

Genomic Alleles

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

Transcript Alleles

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