Canonical Allele Identifier: CA10635295

Gene: DCLRE1C

Linked Data

• ClinVar Variation Id: 299265
• ClinVar RCV Id: RCV000358626
• dbSNP Id: rs528458946
• gnomAD v2: 10-14948920-C-G
• gnomAD v3: 10-14906921-C-G
• gnomAD v4: 10-14906921-C-G
• MyVariant Identifiers: chr10:g.14948920C>G (hg19) ; chr10:g.14906921C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.14906921C>G , CM000672.2:g.14906921C>G	GRCh38
NC_000010.10:g.14948920C>G , CM000672.1:g.14948920C>G	GRCh37
NC_000010.9:g.14988926C>G	NCBI36
NG_007276.1:g.52175G>C , LRG_54:g.52175G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378241.6:c.*3754G>C	ENSP00000367487.3:n.*3754G>C
ENST00000456122.2:c.*1343-7609G>C	ENSP00000413180.3:n.*1343-7609G>C
ENST00000697047.1:c.1782+1784G>C	ENSP00000513066.1:n.1782+1784G>C
ENST00000697070.1:c.2029+1537G>C	ENSP00000513085.1:n.2029+1537G>C
ENST00000697071.1:c.*1702+1784G>C	ENSP00000513086.1:n.*1702+1784G>C
ENST00000697072.1:c.*794+1784G>C	ENSP00000513087.1:n.*794+1784G>C
ENST00000697073.1:c.*1560+1784G>C	ENSP00000513088.2:n.*1560+1784G>C
ENST00000697074.1:c.*1807+1537G>C	ENSP00000513089.2:n.*1807+1537G>C
ENST00000378278.7:c.*1487G>C MANE Select	ENSP00000367527.2:n.*1487G>C
ENST00000378289.8:c.1157-7609G>C	ENSP00000367538.4:n.1157-7609G>C
NM_001033855.2:c.*1487G>C	NP_001029027.1:n.*1487G>C
NM_001033857.2:c.*1487G>C	NP_001029029.1:n.*1487G>C
NM_001033858.2:c.*1487G>C	NP_001029030.1:n.*1487G>C
NM_001289076.1:c.*1487G>C	NP_001276005.1:n.*1487G>C
NM_001289077.1:c.*1487G>C	NP_001276006.1:n.*1487G>C
NM_001289078.1:c.*1487G>C	NP_001276007.1:n.*1487G>C
NM_001289079.1:c.*1487G>C	NP_001276008.1:n.*1487G>C
NM_022487.3:c.*1487G>C	NP_071932.2:n.*1487G>C
NR_110297.1:n.4341G>C
NM_001350965.1:c.1782+1784G>C	NP_001337894.1:n.1782+1784G>C
NM_001350966.1:c.1437+1784G>C	NP_001337895.1:n.1437+1784G>C
NM_001350967.1:c.1422+1784G>C	NP_001337896.1:n.1422+1784G>C
NR_146960.1:n.2149+1784G>C
NR_146961.1:n.4082G>C
NR_146962.1:n.4053G>C
XM_024448134.1:c.*1487G>C	XP_024303902.1:n.*1487G>C
XM_024448135.1:c.1437+1784G>C	XP_024303903.1:n.1437+1784G>C
NM_001033855.3:c.*1487G>C MANE Select	NP_001029027.1:n.*1487G>C
NM_001033857.3:c.*1487G>C	NP_001029029.1:n.*1487G>C
NM_001033858.3:c.*1487G>C	NP_001029030.1:n.*1487G>C
NM_001289076.2:c.*1487G>C	NP_001276005.1:n.*1487G>C
NM_001289077.2:c.*1487G>C	NP_001276006.1:n.*1487G>C
NM_001289078.2:c.*1487G>C	NP_001276007.1:n.*1487G>C
NM_001289079.2:c.*1487G>C	NP_001276008.1:n.*1487G>C
NM_001350965.2:c.1782+1784G>C	NP_001337894.1:n.1782+1784G>C
NM_001350966.2:c.1437+1784G>C	NP_001337895.1:n.1437+1784G>C
NM_001350967.2:c.1422+1784G>C	NP_001337896.1:n.1422+1784G>C
NM_022487.4:c.*1487G>C	NP_071932.2:n.*1487G>C
NR_110297.2:n.4005G>C
NR_146961.2:n.3746G>C