Canonical Allele Identifier: CA004854

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7542041T>C , CM000668.2:g.7542041T>C GRCh38
NC_000006.11:g.7542274T>C , CM000668.1:g.7542274T>C GRCh37
NC_000006.10:g.7487273T>C NCBI36
NG_008803.1:g.5405T>C , LRG_423:g.5405T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000683682.2:c.126T>C (DSP) ENSP00000508162.2:p.Tyr42=
ENST00000710359.1:c.126T>C (DSP) ENSP00000518230.1:p.Tyr42=
ENST00000683563.1:n.18T>C (DSP)
ENST00000683682.1:c.21T>C (DSP) ENSP00000508162.1:p.Tyr7=
ENST00000379802.8:c.126T>C (DSP) MANE Select ENSP00000369129.3:p.Tyr42=
ENST00000379802.7:c.126T>C (DSP) ENSP00000369129.3:p.Tyr42=
ENST00000418664.2:c.126T>C (DSP) ENSP00000396591.2:p.Tyr42=
NM_001008844.1:c.126T>C (DSP) NP_001008844.1:p.Tyr42=
NM_004415.2:c.126T>C , LRG_423t1:c.126T>C (DSP) NP_004406.2:p.Tyr42=
XM_011514323.1:c.126T>C (DSP) XP_011512625.1:p.Tyr42=
XR_241971.2:n.268+730A>G (DSP-AS1)
NM_001008844.2:c.126T>C (DSP) NP_001008844.1:p.Tyr42=
NM_001319034.1:c.126T>C (DSP) NP_001305963.1:p.Tyr42=
NM_004415.3:c.126T>C (DSP) NP_004406.2:p.Tyr42=
XR_241971.3:n.269+730A>G (DSP-AS1)
NM_004415.4:c.126T>C (DSP) MANE Select NP_004406.2:p.Tyr42=
NM_001008844.3:c.126T>C (DSP) NP_001008844.1:p.Tyr42=
NM_001319034.2:c.126T>C (DSP) NP_001305963.1:p.Tyr42=