Canonical Allele Identifier: CA004950

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7542060A>G , CM000668.2:g.7542060A>G GRCh38
NC_000006.11:g.7542293A>G , CM000668.1:g.7542293A>G GRCh37
NC_000006.10:g.7487292A>G NCBI36
NG_008803.1:g.5424A>G , LRG_423:g.5424A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000683682.2:c.145A>G (DSP) ENSP00000508162.2:p.Thr49Ala
ENST00000710359.1:c.145A>G (DSP) ENSP00000518230.1:p.Thr49Ala
ENST00000683563.1:n.37A>G (DSP)
ENST00000683682.1:c.40A>G (DSP) ENSP00000508162.1:p.Thr14Ala
ENST00000379802.8:c.145A>G (DSP) MANE Select ENSP00000369129.3:p.Thr49Ala
ENST00000379802.7:c.145A>G (DSP) ENSP00000369129.3:p.Thr49Ala
ENST00000418664.2:c.145A>G (DSP) ENSP00000396591.2:p.Thr49Ala
NM_001008844.1:c.145A>G (DSP) NP_001008844.1:p.Thr49Ala
NM_004415.2:c.145A>G , LRG_423t1:c.145A>G (DSP) NP_004406.2:p.Thr49Ala
XM_011514323.1:c.145A>G (DSP) XP_011512625.1:p.Thr49Ala
XR_241971.2:n.268+711T>C (DSP-AS1)
NM_001008844.2:c.145A>G (DSP) NP_001008844.1:p.Thr49Ala
NM_001319034.1:c.145A>G (DSP) NP_001305963.1:p.Thr49Ala
NM_004415.3:c.145A>G (DSP) NP_004406.2:p.Thr49Ala
XR_241971.3:n.269+711T>C (DSP-AS1)
NM_004415.4:c.145A>G (DSP) MANE Select NP_004406.2:p.Thr49Ala
NM_001008844.3:c.145A>G (DSP) NP_001008844.1:p.Thr49Ala
NM_001319034.2:c.145A>G (DSP) NP_001305963.1:p.Thr49Ala