Canonical Allele Identifier: CA2578524020

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7541904T>C , CM000668.2:g.7541904T>C GRCh38
NC_000006.11:g.7542137T>C , CM000668.1:g.7542137T>C GRCh37
NC_000006.10:g.7487136T>C NCBI36
NG_008803.1:g.5268T>C , LRG_423:g.5268T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000683682.2:c.-12T>C (DSP) ENSP00000508162.2:n.-12T>C
ENST00000710359.1:c.-12T>C (DSP) ENSP00000518230.1:n.-12T>C
ENST00000379802.8:c.-12T>C (DSP) MANE Select ENSP00000369129.3:n.-12T>C
ENST00000379802.7:c.-12T>C (DSP) ENSP00000369129.3:n.-12T>C
ENST00000418664.2:c.-12T>C (DSP) ENSP00000396591.2:n.-12T>C
NM_001008844.1:c.-12T>C (DSP) NP_001008844.1:n.-12T>C
NM_004415.2:c.-12T>C , LRG_423t1:c.-12T>C (DSP) NP_004406.2:n.-12T>C
XM_011514323.1:c.-12T>C (DSP) XP_011512625.1:n.-12T>C
XR_241971.2:n.269-851A>G (DSP-AS1)
NM_001008844.2:c.-12T>C (DSP) NP_001008844.1:n.-12T>C
NM_001319034.1:c.-12T>C (DSP) NP_001305963.1:n.-12T>C
NM_004415.3:c.-12T>C (DSP) NP_004406.2:n.-12T>C
XR_241971.3:n.270-851A>G (DSP-AS1)
NM_004415.4:c.-12T>C (DSP) MANE Select NP_004406.2:n.-12T>C
NM_001008844.3:c.-12T>C (DSP) NP_001008844.1:n.-12T>C
NM_001319034.2:c.-12T>C (DSP) NP_001305963.1:n.-12T>C