Canonical Allele Identifier: CA638690336
Gene: DERL3 HGNC NCBI
SMARCB1 HGNC NCBI

Linked Data

dbSNP Id: rs1264687620

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23834510T>G , CM000684.2:g.23834510T>G GRCh38
NC_000022.10:g.24176697T>G , CM000684.1:g.24176697T>G GRCh37
NC_000022.9:g.22506697T>G NCBI36
NG_009303.1:g.52548T>G , LRG_520:g.52548T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318109.12:c.*2359A>C (DERL3) MANE Select ENSP00000315303.8:n.*2359A>C
ENST00000407422.8:c.*330T>G (SMARCB1) ENSP00000383984.3:n.*330T>G
ENST00000644036.2:c.*330T>G (SMARCB1) MANE Select ENSP00000494049.2:n.*330T>G
ENST00000263121.11:c.*330T>G (SMARCB1) ENSP00000263121.7:n.*330T>G
ENST00000290730.11:n.3518A>C (DERL3)
ENST00000344921.10:c.*330T>G (SMARCB1) ENSP00000340883.6:n.*330T>G
ENST00000404056.1:c.*2550A>C (DERL3) ENSP00000384473.1:n.*2550A>C
ENST00000406855.7:c.*317A>C (DERL3) ENSP00000384744.3:n.*317A>C
ENST00000407422.7:c.*330T>G (SMARCB1) ENSP00000383984.3:n.*330T>G
ENST00000464023.1:n.638A>C (DERL3)
NM_001002862.2:c.*2359A>C (DERL3) NP_001002862.1:n.*2359A>C
NM_001007468.1:c.*330T>G (SMARCB1) NP_001007469.1:n.*330T>G
NM_001135751.1:c.*317A>C (DERL3) NP_001129223.1:n.*317A>C
NM_003073.3:c.*330T>G , LRG_520t1:c.*330T>G (SMARCB1) NP_003064.2:n.*330T>G
NM_198440.3:c.*2550A>C (DERL3) NP_940842.2:n.*2550A>C
XM_011530345.1:c.*330T>G (SMARCB1) XP_011528647.1:n.*330T>G
XM_011530346.1:c.*330T>G (SMARCB1) XP_011528648.1:n.*330T>G
XM_011530504.1:c.*317A>C (DERL3) XP_011528806.1:n.*317A>C
XM_011530506.1:c.*382A>C (DERL3) XP_011528808.1:n.*382A>C
XM_011530507.1:c.*317A>C (DERL3) XP_011528809.1:n.*317A>C
NM_001007468.2:c.*330T>G (SMARCB1) NP_001007469.1:n.*330T>G
NM_001317946.1:c.*330T>G (SMARCB1) NP_001304875.1:n.*330T>G
NM_001362877.1:c.*330T>G (SMARCB1) NP_001349806.1:n.*330T>G
NM_001363072.1:c.*382A>C (DERL3) NP_001350001.1:n.*382A>C
NM_003073.4:c.*330T>G (SMARCB1) NP_003064.2:n.*330T>G
XM_017029082.2:c.*317A>C (DERL3) XP_016884571.1:n.*317A>C
NM_001002862.3:c.*2359A>C (DERL3) MANE Select NP_001002862.1:n.*2359A>C
NM_001007468.3:c.*330T>G (SMARCB1) NP_001007469.1:n.*330T>G
NM_001135751.2:c.*317A>C (DERL3) NP_001129223.1:n.*317A>C
NM_001317946.2:c.*330T>G (SMARCB1) NP_001304875.1:n.*330T>G
NM_001362877.2:c.*330T>G (SMARCB1) NP_001349806.1:n.*330T>G
NM_001363072.2:c.*382A>C (DERL3) NP_001350001.1:n.*382A>C
NM_003073.5:c.*330T>G (SMARCB1) MANE Select NP_003064.2:n.*330T>G
NM_198440.4:c.*2550A>C (DERL3) NP_940842.2:n.*2550A>C