Canonical Allele Identifier: CA117004
Gene: DCLRE1C HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 4673
dbSNP Id: rs121908157

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.14934461G>T , CM000672.2:g.14934461G>T GRCh38
NC_000010.9:g.15016466G>T NCBI36
NC_000010.10:g.14976460G>T , CM000672.1:g.14976460G>T GRCh37
NG_007276.1:g.24635C>A , LRG_54:g.24635C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000357717.6:c.252C>A ENSP00000350349.2:p.Tyr84Ter
ENST00000378241.5:c.237C>A ENSP00000367487.1:p.Tyr79Ter
ENST00000378246.6:c.252C>A ENSP00000367492.2:p.Tyr84Ter
ENST00000378249.5:c.252C>A ENSP00000367496.1:p.Tyr84Ter
ENST00000378254.5:c.237C>A ENSP00000367502.1:p.Tyr79Ter
ENST00000378255.5:c.237C>A ENSP00000367503.1:p.Tyr79Ter
ENST00000378258.5:c.237C>A ENSP00000367506.1:p.Tyr79Ter
ENST00000378278.6:c.597C>A ENSP00000367527.2:p.Tyr199Ter
ENST00000378289.8:c.597C>A ENSP00000367538.4:p.Tyr199Ter
ENST00000396817.6:c.237C>A ENSP00000380030.2:p.Tyr79Ter
ENST00000418843.5:c.159C>A ENSP00000391428.1:p.Tyr53Ter
NM_001033855.2:c.597C>A NP_001029027.1:p.Tyr199Ter
NM_001033857.2:c.237C>A NP_001029029.1:p.Tyr79Ter
NM_001033858.2:c.237C>A NP_001029030.1:p.Tyr79Ter
NM_001289076.1:c.252C>A NP_001276005.1:p.Tyr84Ter
NM_001289077.1:c.237C>A NP_001276006.1:p.Tyr79Ter
NM_001289078.1:c.252C>A NP_001276007.1:p.Tyr84Ter
NM_001289079.1:c.237C>A NP_001276008.1:p.Tyr79Ter
NM_022487.3:c.252C>A NP_071932.2:p.Tyr84Ter
NR_110297.1:n.1231C>A
XM_006717491.2:c.252C>A XP_006717554.1:p.Tyr84Ter
XM_011519616.1:c.252C>A XP_011517918.1:p.Tyr84Ter
XM_011519617.1:c.252C>A XP_011517919.1:p.Tyr84Ter
XM_011519618.1:c.252C>A XP_011517920.1:p.Tyr84Ter
XM_011519619.1:c.237C>A XP_011517921.1:p.Tyr79Ter
XM_011519620.1:c.597C>A XP_011517922.1:p.Tyr199Ter
XM_011519621.1:c.597C>A XP_011517923.1:p.Tyr199Ter
XR_242702.2:n.694C>A
XR_930514.1:n.694C>A
XR_930515.1:n.694C>A