Canonical Allele Identifier: CA10634970

Gene: DCLRE1C

Linked Data

• ClinVar Variation Id: 299285
• ClinVar RCV Id: RCV000353510
• dbSNP Id: rs575242970
• gnomAD v2: 10-14949529-G-C
• gnomAD v3: 10-14907530-G-C
• gnomAD v4: 10-14907530-G-C
• MyVariant Identifiers: chr10:g.14949529G>C (hg19) ; chr10:g.14907530G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.14907530G>C , CM000672.2:g.14907530G>C	GRCh38
NC_000010.10:g.14949529G>C , CM000672.1:g.14949529G>C	GRCh37
NC_000010.9:g.14989535G>C	NCBI36
NG_007276.1:g.51566C>G , LRG_54:g.51566C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378241.6:c.*3145C>G	ENSP00000367487.3:n.*3145C>G
ENST00000456122.2:c.*1343-8218C>G	ENSP00000413180.3:n.*1343-8218C>G
ENST00000697047.1:c.1782+1175C>G	ENSP00000513066.1:n.1782+1175C>G
ENST00000697070.1:c.2029+928C>G	ENSP00000513085.1:n.2029+928C>G
ENST00000697071.1:c.*1702+1175C>G	ENSP00000513086.1:n.*1702+1175C>G
ENST00000697072.1:c.*794+1175C>G	ENSP00000513087.1:n.*794+1175C>G
ENST00000697073.1:c.*1560+1175C>G	ENSP00000513088.2:n.*1560+1175C>G
ENST00000697074.1:c.*1807+928C>G	ENSP00000513089.2:n.*1807+928C>G
ENST00000378278.7:c.*878C>G MANE Select	ENSP00000367527.2:n.*878C>G
ENST00000378289.8:c.1157-8218C>G	ENSP00000367538.4:n.1157-8218C>G
NM_001033855.2:c.*878C>G	NP_001029027.1:n.*878C>G
NM_001033857.2:c.*878C>G	NP_001029029.1:n.*878C>G
NM_001033858.2:c.*878C>G	NP_001029030.1:n.*878C>G
NM_001289076.1:c.*878C>G	NP_001276005.1:n.*878C>G
NM_001289077.1:c.*878C>G	NP_001276006.1:n.*878C>G
NM_001289078.1:c.*878C>G	NP_001276007.1:n.*878C>G
NM_001289079.1:c.*878C>G	NP_001276008.1:n.*878C>G
NM_022487.3:c.*878C>G	NP_071932.2:n.*878C>G
NR_110297.1:n.3732C>G
NM_001350965.1:c.1782+1175C>G	NP_001337894.1:n.1782+1175C>G
NM_001350966.1:c.1437+1175C>G	NP_001337895.1:n.1437+1175C>G
NM_001350967.1:c.1422+1175C>G	NP_001337896.1:n.1422+1175C>G
NR_146960.1:n.2149+1175C>G
NR_146961.1:n.3473C>G
NR_146962.1:n.3444C>G
XM_024448134.1:c.*878C>G	XP_024303902.1:n.*878C>G
XM_024448135.1:c.1437+1175C>G	XP_024303903.1:n.1437+1175C>G
NM_001033855.3:c.*878C>G MANE Select	NP_001029027.1:n.*878C>G
NM_001033857.3:c.*878C>G	NP_001029029.1:n.*878C>G
NM_001033858.3:c.*878C>G	NP_001029030.1:n.*878C>G
NM_001289076.2:c.*878C>G	NP_001276005.1:n.*878C>G
NM_001289077.2:c.*878C>G	NP_001276006.1:n.*878C>G
NM_001289078.2:c.*878C>G	NP_001276007.1:n.*878C>G
NM_001289079.2:c.*878C>G	NP_001276008.1:n.*878C>G
NM_001350965.2:c.1782+1175C>G	NP_001337894.1:n.1782+1175C>G
NM_001350966.2:c.1437+1175C>G	NP_001337895.1:n.1437+1175C>G
NM_001350967.2:c.1422+1175C>G	NP_001337896.1:n.1422+1175C>G
NM_022487.4:c.*878C>G	NP_071932.2:n.*878C>G
NR_110297.2:n.3396C>G
NR_146961.2:n.3137C>G