Canonical Allele Identifier: CA362675859

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7542032G>C , CM000668.2:g.7542032G>C GRCh38
NC_000006.11:g.7542265G>C , CM000668.1:g.7542265G>C GRCh37
NC_000006.10:g.7487264G>C NCBI36
NG_008803.1:g.5396G>C , LRG_423:g.5396G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000683682.2:c.117G>C (DSP) ENSP00000508162.2:p.Arg39Ser
ENST00000710359.1:c.117G>C (DSP) ENSP00000518230.1:p.Arg39Ser
ENST00000683563.1:n.9G>C (DSP)
ENST00000683682.1:c.12G>C (DSP) ENSP00000508162.1:p.Arg4Ser
ENST00000379802.8:c.117G>C (DSP) MANE Select ENSP00000369129.3:p.Arg39Ser
ENST00000379802.7:c.117G>C (DSP) ENSP00000369129.3:p.Arg39Ser
ENST00000418664.2:c.117G>C (DSP) ENSP00000396591.2:p.Arg39Ser
NM_001008844.1:c.117G>C (DSP) NP_001008844.1:p.Arg39Ser
NM_004415.2:c.117G>C , LRG_423t1:c.117G>C (DSP) NP_004406.2:p.Arg39Ser
XM_011514323.1:c.117G>C (DSP) XP_011512625.1:p.Arg39Ser
XR_241971.2:n.268+739C>G (DSP-AS1)
NM_001008844.2:c.117G>C (DSP) NP_001008844.1:p.Arg39Ser
NM_001319034.1:c.117G>C (DSP) NP_001305963.1:p.Arg39Ser
NM_004415.3:c.117G>C (DSP) NP_004406.2:p.Arg39Ser
XR_241971.3:n.269+739C>G (DSP-AS1)
NM_004415.4:c.117G>C (DSP) MANE Select NP_004406.2:p.Arg39Ser
NM_001008844.3:c.117G>C (DSP) NP_001008844.1:p.Arg39Ser
NM_001319034.2:c.117G>C (DSP) NP_001305963.1:p.Arg39Ser